Articoli di riviste: "DFNB16"

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Aldè, Mirko, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito et al. "Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review". Biomedicines 11, n. 6 (1 giugno 2023): 1616. http://dx.doi.org/10.3390/biomedicines11061616.

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Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history. To date, more than 50 genes and 80 loci have been identified for autosomal dominant non-syndromic HL. DFNA22 (MYO6 gene), DFNA8/12 (TECTA gene), DFNA20/26 (ACTG1 gene), DFNA6/14/38 (WFS1 gene), DFNA15 (POU4F3 gene), DFNA2A (KCNQ4 gene), and DFNA10 (EYA4 gene) are some of the most common forms of autosomal dominant non-syndromic HL. The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood to early adulthood), high-frequency (sloping audiometric configuration), progressive, and variable in severity (mild to profound degree). DFNA1 (DIAPH1 gene) and DFNA6/14/38 (WFS1 gene) are the most common forms of autosomal dominant non-syndromic HL affecting low frequencies, while DFNA16 (unknown gene) is characterized by fluctuating HL. A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or cochlear implants.

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Domínguez-Ruiz, María, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar et al. "Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects". Biomedicines 11, n. 11 (31 ottobre 2023): 2943. http://dx.doi.org/10.3390/biomedicines11112943.

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Non-syndromic hearing impairment (NSHI) is a very heterogeneous genetic condition, involving over 130 genes. Mutations in GJB2, encoding connexin-26, are a major cause of NSHI (the DFNB1 type), but few other genes have significant epidemiological contributions. Mutations in the STRC gene result in the DFNB16 type of autosomal recessive NSHI, a common cause of moderate hearing loss. STRC is located in a tandem duplicated region that includes the STRCP1 pseudogene, and so it is prone to rearrangements causing structural variations. Firstly, we screened a cohort of 122 Spanish familial cases of non-DFNB1 NSHI with at least two affected siblings and unaffected parents, and with different degrees of hearing loss (mild to profound). Secondly, we screened a cohort of 64 Spanish sporadic non-DFNB1 cases, and a cohort of 35 Argentinean non-DFNB1 cases, all of them with moderate hearing loss. Amplification of marker D15S784, massively parallel DNA sequencing, multiplex ligation-dependent probe amplification and long-range gene-specific PCR followed by Sanger sequencing were used to search and confirm single-nucleotide variants (SNVs) and deletions involving STRC. Causative variants were found in 13 Spanish familial cases (10.7%), 5 Spanish simplex cases (7.8%) and 2 Argentinean cases (5.7%). In all, 34 deleted alleles and 6 SNVs, 5 of which are novel. All affected subjects had moderate hearing impairment. Our results further support this strong genotype–phenotype correlation and highlight the significant contribution of STRC mutations to moderate NSHI in the Spanish population.

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Back, Daniela, Wafaa Shehata-Dieler, Barbara Vona, Michaela A. H. Hofrichter, Joerg Schroeder, Thomas Haaf, Torsten Rahne, Rudolf Hagen e Sebastian P. Schraven. "Phenotypic Characterization of DFNB16-associated Hearing Loss". Otology & Neurotology 40, n. 1 (gennaio 2019): e48-e55. http://dx.doi.org/10.1097/mao.0000000000002059.

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Faridi, Rabia, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J. Morell, Elizabeth Wilson et al. "Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice". Genes 15, n. 7 (27 giugno 2024): 845. http://dx.doi.org/10.3390/genes15070845.

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Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many mutant genes causing rare forms of deafness remain to be discovered. A consanguineous Pakistani family segregating nonsyndromic deafness in two sibships were studied using microarrays and exome sequencing. A 1.2 Mb locus (DFNB128) on chromosome 5q11.2 encompassing six genes was identified. In one of the two sibships of this family, a novel homozygous recessive variant NM_005921.2:c.4460G>A p.(Arg1487His) in the kinase domain of MAP3K1 co-segregated with nonsyndromic deafness. There are two previously reported Map3k1-kinase-deficient mouse models that are associated with recessively inherited syndromic deafness. MAP3K1 phosphorylates serine and threonine and functions in a signaling pathway where pathogenic variants of HGF, MET, and GAB1 were previously reported to be associated with human deafness DFNB39, DFNB97, and DFNB26, respectively. Our single-cell transcriptome data of mouse cochlea mRNA show expression of Map3k1 and its signaling partners in several inner ear cell types suggesting a requirement of wild-type MAP3K1 for normal hearing. In contrast to dominant variants of MAP3K1 associated with Disorders of Sex Development 46,XY sex-reversal, our computational modeling of the recessive substitution p.(Arg1487His) predicts a subtle structural alteration in MAP3K1, consistent with the limited phenotype of nonsyndromic deafness.

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Frykholm, Carina, Joakim Klar, Tatjana Tomanovic, Adam Ameur e Niklas Dahl. "Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype". European Journal of Human Genetics 26, n. 12 (24 settembre 2018): 1871–74. http://dx.doi.org/10.1038/s41431-018-0256-6.

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Avan, Paul, Sébastien Le Gal, Vincent Michel, Typhaine Dupont, Jean-Pierre Hardelin, Christine Petit e Elisabeth Verpy. "Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane". Proceedings of the National Academy of Sciences 116, n. 51 (27 novembre 2019): 25948–57. http://dx.doi.org/10.1073/pnas.1902781116.

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The function of outer hair cells (OHCs), the mechanical actuators of the cochlea, involves the anchoring of their tallest stereocilia in the tectorial membrane (TM), an acellular structure overlying the sensory epithelium. Otogelin and otogelin-like are TM proteins related to secreted epithelial mucins. Defects in either cause the DFNB18B and DFNB84B genetic forms of deafness, respectively, both characterized by congenital mild-to-moderate hearing impairment. We show here that mutant mice lacking otogelin or otogelin-like have a marked OHC dysfunction, with almost no acoustic distortion products despite the persistence of some mechanoelectrical transduction. In both mutants, these cells lack the horizontal top connectors, which are fibrous links joining adjacent stereocilia, and the TM-attachment crowns coupling the tallest stereocilia to the TM. These defects are consistent with the previously unrecognized presence of otogelin and otogelin-like in the OHC hair bundle. The defective hair bundle cohesiveness and the absence of stereociliary imprints in the TM observed in these mice have also been observed in mutant mice lacking stereocilin, a model of the DFNB16 genetic form of deafness, also characterized by congenital mild-to-moderate hearing impairment. We show that the localizations of stereocilin, otogelin, and otogelin-like in the hair bundle are interdependent, indicating that these proteins interact to form the horizontal top connectors and the TM-attachment crowns. We therefore suggest that these 2 OHC-specific structures have shared mechanical properties mediating reaction forces to sound-induced shearing motion and contributing to the coordinated displacement of stereocilia.

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Drury, Stacy S., e Bronya J. B. Keats. "Mouse Tales from Kresge: The Deafness Mouse". Journal of the American Academy of Audiology 14, n. 06 (giugno 2003): 296–301. http://dx.doi.org/10.1055/s-0040-1715745.

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Mouse models for human deafness have not only proven instrumental in the identification of genes for hereditary hearing loss, but are excellent model systems in which to examine gene function as well as the resulting pathophysiology. One mouse model for human nonsyndromic deafness is the deafness (dn) mouse, a spontaneous mutation in the curly-tail (ct) stock. The dn gene is on mouse Chromosome 19 and it was recently shown to be a novel gene called Tmc1. A mutation in Tmc1 is also found in Beethoven (Bth), which is another deaf mouse mutant. In humans, one autosomal dominant form of nonsyndromic hearing loss (DFNA36) and two autosomal recessive forms (DFNB7 and DFNB11) are associated with mutations in TMC1, the human homologue of Tmc1. The transmembrane protein encoded by this gene is required for normal cochlear hair cell function and the mouse models will facilitate the elucidation of the molecular pathway that is disrupted when mutations are present.

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Achard, S., F. Simon, F. Denoyelle e S. Marlin. "Vertiges positionnels paroxystiques bénins récidivants chez deux enfants DFNB16 d’une même fratrie : cas clinique CARE". Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale 140, n. 3 (giugno 2023): 129–32. http://dx.doi.org/10.1016/j.aforl.2022.10.008.

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Cosetti, Maura, David Culang, Sumankrishna Kotla, Peter O'Brien, Daniel F. Eberl e Frances Hannan. "Unique Transgenic Animal Model for Hereditary Hearing Loss". Annals of Otology, Rhinology & Laryngology 117, n. 11 (novembre 2008): 827–33. http://dx.doi.org/10.1177/000348940811701106.

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Objectives: This study capitalizes on the unique molecular and developmental similarities between the auditory organs of Drosophila and mammals, to investigate genes implicated in human syndromic and nonsyndromic hearing loss in a genetically tractable experimental animal model, the fruit fly Drosophila. Methods: The Drosophila counterparts of 3 human deafness genes (DIAPH1/DFNA1, ESPN/DFNB36, and TMHS/DFNB67) were identified by sequence similarity. An electrophysiological assay was used to record sound-evoked potentials in response to an acoustic stimulus, the Drosophila courtship song. Results: Flies with mutations affecting the diaphanous, forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies (p < 0.05 to p < 0.005). The mean responses were reduced from approximately 500 to 600 μV in wild-type flies to approximately 100 to 300 μV in most mutant flies. Conclusions: The identification of significant auditory dysfunction in Drosophila orthologs of human deafness genes will facilitate exploration of the molecular biochemistry of auditory mechanosensation. This may eventually allow for novel diagnostic and therapeutic approaches to human hereditary hearing loss.

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Vona, B., M. A. H. Hofrichter, C. Neuner, J. Schröder, A. Gehrig, J. B. Hennermann, F. Kraus et al. "DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics". Clinical Genetics 87, n. 1 (21 gennaio 2014): 49–55. http://dx.doi.org/10.1111/cge.12332.

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Campbell, D. A., D. P. McHale, K. A. Brown, L. M. Moynihan, M. Houseman, G. Karbani, G. Parry et al. "A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22." Journal of Medical Genetics 34, n. 12 (1 dicembre 1997): 1015–17. http://dx.doi.org/10.1136/jmg.34.12.1015.

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Čada, Zdeněk, Dana Šafka Brožková, Zuzana Balatková, Pavlína Plevová, Dagmar Rašková, Jana Laštůvková, Rudolf Černý et al. "Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene". European Archives of Oto-Rhino-Laryngology 276, n. 12 (24 settembre 2019): 3353–58. http://dx.doi.org/10.1007/s00405-019-05649-5.

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Ammar-Khodja, Fatima, Valérie Faugère, David Baux, Claire Giannesini, Susana Léonard, Mohamed Makrelouf, Rahia Malek et al. "Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F". European Journal of Medical Genetics 52, n. 4 (luglio 2009): 174–79. http://dx.doi.org/10.1016/j.ejmg.2009.03.018.

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Gao, Xue, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu Su, Xi Lin e Pu Dai. "Novel Mutations and Mutation Combinations ofTMPRSS3Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment". BioMed Research International 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/4707315.

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Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in theTMPRSS3gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8).TMPRSS3mutations can be classified as mild or severe, and the phenotype is dependent on the combination ofTMPRSS3mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milderTMPRSS3mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations inTMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations ofTMPRSS3mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family.

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Verpy, Elisabeth, Saber Masmoudi, Ingrid Zwaenepoel, Michel Leibovici, Tim P. Hutchin, Ignacio Del Castillo, Sylvie Nouaille et al. "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus". Nature Genetics 29, n. 3 (10 settembre 2001): 345–49. http://dx.doi.org/10.1038/ng726.

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Villamar, Manuela, Ignacio del Castillo, Noelia Valle, Lourdes Romero e Felipe Moreno. "Deafness Locus DFNB16 Is Located on Chromosome 15q13-q21 within a 5-cM Interval Flanked by Markers D15S994 and D15S132". American Journal of Human Genetics 64, n. 4 (aprile 1999): 1238–41. http://dx.doi.org/10.1086/302321.

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Domínguez-Ruiz, María, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini et al. "Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder". Genes 13, n. 1 (15 gennaio 2022): 149. http://dx.doi.org/10.3390/genes13010149.

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Pathogenic variants in the PJVK gene cause the DFNB59 type of autosomal recessive non-syndromic hearing impairment (AR-NSHI). Phenotypes are not homogeneous, as a few subjects show auditory neuropathy spectrum disorder (ANSD), while others show cochlear hearing loss. The numbers of reported cases and pathogenic variants are still small to establish accurate genotype-phenotype correlations. We investigated a cohort of 77 Spanish familial cases of AR-NSHI, in whom DFNB1 had been excluded, and a cohort of 84 simplex cases with isolated ANSD in whom OTOF variants had been excluded. All seven exons and exon-intron boundaries of the PJVK gene were sequenced. We report three novel DFNB59 cases, one from the AR-NSHI cohort and two from the ANSD cohort, with stable, severe to profound NSHI. Two of the subjects received unilateral cochlear implantation, with apparent good outcomes. Our study expands the spectrum of PJVK mutations, as we report four novel pathogenic variants: p.Leu224Arg, p.His294Ilefs*43, p.His294Asp and p.Phe317Serfs*20. We review the reported cases of DFNB59, summarize the clinical features of this rare subtype of AR-NSHI and discuss the involvement of PJVK in ANSD.

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Van Camp, Guy, Henricus Kunst, Kris Flothmann, Wyman McGuirt, Jan Wauters, Henri Marres, Margriet Verstreken et al. "A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus". Journal of Medical Genetics 36, n. 7 (1 luglio 1999): 532–36. http://dx.doi.org/10.1136/jmg.36.7.532.

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Non-syndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 reported gene localisations. We have identified a large Dutch family with autosomal dominant non-syndromic sensorineural hearing impairment. In most patients, the onset of hearing impairment is in the first or second decade of life, with a slow decline in the following decades, which stops short of profound deafness. The hearing loss is bilateral, symmetrical, and only affects low and mid frequencies up to 2000 Hz. In view of the phenotypic similarities of this family with an American family that has been linked to chromosome 4p16.3 (DFNA6), we investigated linkage to the DFNA6 region. Lod score calculations confirmed linkage to this region with two point lod scores above 6. However, as haplotype analysis indicated that the genetic defect in this family is located in a 5.6 cM candidate region that does not overlap the DFNA6 region, the new locus has been named DFNA14.

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Kochhar, Amit, Simon I. Angeli, Sandeep P. Dave e Xue Z. Liu. "Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss". Otolaryngology–Head and Neck Surgery 140, n. 5 (maggio 2009): 665–69. http://dx.doi.org/10.1016/j.otohns.2009.01.031.

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Objectives: To evaluate temporal bone CT findings in GJB2-related deafness (DFNB1) hearing loss and non-DFNB1 hearing loss children. Study Design: Case-control series. Subjects and Methods: Children with nonsyndromic hearing loss diagnosed as DFNB1 or non-DFNB1 after screening GJB2 allele variants and the large GJB6 deletion. Temporal bone CT images compared in a cohort of nine DFNB1 children with 10 non-DFNB1 children. Visual criteria and absolute measurements were compared against established normative values. Results: Visual inspection failed to identify two patients with abnormalities identified by using absolute measurements. Only one of nine DFNB1 children had an ear anomaly versus seven of 10 non-DFNB1 (odds ratio 16.33; 95% CI, 1.35, 197.78; P = 0.050). The non-DFNB1 group had a mean vestibule width that was significantly larger, and a mean lateral semicircular canal island width and vestibular aqueduct that were significantly smaller than the DFNB1 group. Conclusions: Visual inspection of temporal bone CT images alone may not identify all anomalies and should be used with absolute CT measurements. Abnormal temporal bone CT findings are significantly less likely in children with DFNB1 compared with non-DFNB1 children despite similar age and degree of hearing loss.

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Connell, Sarah S., Simon I. Angeli, Hamlet Suarez, Annelle V. Hodges, Thomas J. Balkany e Xue Z. Liu. "Performance after cochlear implantation in DFNB1 patients". Otolaryngology–Head and Neck Surgery 137, n. 4 (ottobre 2007): 596–602. http://dx.doi.org/10.1016/j.otohns.2007.02.017.

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Objective To evaluate the speech perception and language development with cochlear implants (CI) of DFNB1 children in comparison with non-DFNB1 deaf children. Study Design Retrospective case series. Setting Academic tertiary center. Results Thirty-one congenitally deafened children, screened for GJB2 allele variants, were followed for an average 32 months after CI. With the use of age-appropriate testing, 75% of DFNB1 and 53% of non-DFNB1 children achieved open set word recognition (speech perception category [SPC] level 6). Multivariate analysis showed that SPC was primarily dependent on duration of CI use, but not on the cause of hearing loss. In Reynell language tests, DFNB1 children showed more consistent and quicker gains than non-DFNB1 children. Conclusion Although children with CI with DFNB1 show faster gains in Reynell scores, duration of CI use appears to have a greater effect on speech perception than DFNB1 status. SIGNIFICANCE: Identification of DFNB1 children is useful in counseling of CI outcomes.

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Iwasa, Yoichiro, Miles J. Klimara, Hidekane Yoshimura, William D. Walls, Ryotaro Omichi, Cody A. West, Seiji B. Shibata, Paul T. Ranum e Richard JH Smith. "Mutation-agnostic RNA interference with engineered replacement rescuesTmc1-related hearing loss". Life Science Alliance 6, n. 3 (27 dicembre 2022): e202201592. http://dx.doi.org/10.26508/lsa.202201592.

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Hearing loss is the most common sensory deficit, of which genetic etiologies are a frequent cause. Dominant and recessive mutations inTMC1, a gene encoding the pore-forming subunit of the hair cell mechanotransduction channel, cause DFNA36 and DFNB7/11, respectively, accounting for ∼2% of genetic hearing loss. Previous work has established the efficacy of mutation-targeted RNAi in treatment of murine models of autosomal dominant non-syndromic deafness. However, application of such approaches is limited by the infeasibility of development and validation of novel constructs for each variant. We developed an allele-non-specific approach consisting of mutation-agnostic RNAi suppression of both mutant and WT alleles, co-delivered with a knockdown-resistant engineered WT allele with or without the use of woodchuck hepatitis virus post-transcriptional regulatory element (WPRE) to augment transgene expression. This therapeutic construct was delivered into the mature murine model of DFNA36 with an AAV vector and achieved robust hair cell and auditory brainstem response preservation. However, WPRE-enhancedTmc1expression resulted in inferior outcomes, suggesting a role for gene dosage optimization in futureTMC1gene therapy development.

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Kochhar, Amit, Simon I. Angeli, Sandeep Dave e Xue-Zhong Liu. "Imaging Correlation of DFNB1 vs Non-DFNB1 Hearing Loss". Otolaryngology–Head and Neck Surgery 139, n. 2_suppl (agosto 2008): P56. http://dx.doi.org/10.1016/j.otohns.2008.05.182.

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Objective To evaluate temporal bone computerized tomography (CT) findings in children with DFNB1 hearing loss (HL) and non-DFNB1 deaf children, using absolute measurements and visual inspection. Methods A retrospective case-control series (1998 to 2005) was performed at an academic tertiary center. Children with non-syndromic HL were diagnosed as DFNB1 or non-DFNB1 after screening for GJB2 allele variants and the large GJB6 deletion. After matching for degree of HL, temporal bone CT images were compared in a cohort of 8 DFNB1 children (16 ears) to 9 non-DFNB1 children (18 ears). Visual criteria and absolute measurements were compared against normative values established by Purcell (2003). Absolute measurements between groups were compared using the student t-test. Non-parametric statistical tests were used when appropriate. Significance level was 0.05. Results Visual inspection failed to identify 2 patients with abnormalities found using absolute measurements. There was a statistically significant difference in the prevalence of abnormal temporal bone CT findings between DFNB1 (1 of 16 ears) and non-DFNB1 (10 of 18 ears) (p<0.0031, Fisher exact test). Of the absolute measurements, only the mean vestibule width in the non-DFNB1 group (4.195 ± 0.5 mm) was significantly greater than in the DFNB1 group (3.65 ± 0.2 mm) (p < 0.001). Conclusions Visual inspection of temporal bone CT images alone may not adequately identify anomalies and should be used in conjunction with absolute CT measurements. Abnormal temporal bone CT findings are significantly less likely in children with DFNB1 when compared to non-DFNB1 children, despite matching for a similar degree of HL.

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Modamio-Hoybjor, S. "A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci". Journal of Medical Genetics 41, n. 2 (1 febbraio 2004): 14e—14. http://dx.doi.org/10.1136/jmg.2003.012500.

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Jahn, Kelly N., Molly D. Bergan e Julie G. Arenberg. "Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations". American Journal of Audiology 29, n. 1 (5 marzo 2020): 23–34. http://dx.doi.org/10.1044/2019_aja-19-00054.

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Purpose The goal of this study was to evaluate differences in the electrode–neuron interface as a function of hearing loss etiology in pediatric cochlear implant (CI) listeners with enlarged vestibular aqueduct (EVA) syndrome and in those with autosomal recessive connexin-26 mutations (DFNB1). Method Fifteen implanted ears (9 participants, 5 ears with EVA, 10 ears with DFNB1) were assessed. Single-channel auditory detection thresholds were measured using broad and spatially focused electrode configurations (steered quadrupolar; focusing coefficients = 0 and 0.9). Cochlear resistivity estimates were obtained via electrode impedances and electrical field imaging. Between-group differences were evaluated using linear mixed-effects models. Results Children with EVA had significantly higher auditory detection thresholds than children with DFNB1, irrespective of electrode configuration. Between-group differences in thresholds were more pronounced on apical electrodes than on basal electrodes. In the apex, electrode impedances and electrical field imaging values were higher for children with EVA than for those with DFNB1. Conclusions The electrode–neuron interface differs between pediatric CI listeners with DFNB1 and those with EVA. It is possible that optimal clinical interventions may depend, in part, on hearing loss etiology. Future investigations with large samples should investigate individualized CI programming strategies for listeners with EVA and DFNB1.

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Gao, Xue, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang et al. "Identification ofTMPRSS3as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population". Neural Plasticity 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/3192090.

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Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Mutations in theTMPRSS3(transmembrane protease, serine 3) gene cause prelingual (DFNB10) or postlingual (DFNB8) deafness. In our previous study, three pathogenic mutations inTMPRSS3were identified in one Chinese family. To evaluate the importance ofTMPRSS3mutations in recessive deafness among the Chinese, we screened 150 autosomal recessive nonsyndromic hearing loss (ARNSHL) families and identified 6 that carried seven causativeTMPRSS3mutations, including five novel mutations (c.809T>A, c.1151T>G, c.1204G>A, c.1244T>C, and c.1250G>A) and two previously reported mutations (c.323-6G>A and c.916G>A). Each of the five novel mutations was classified as severe, by both age of onset and severity of hearing loss. Together with our previous study, six families were found to share one pathogenic mutation (c.916G>A, p.Ala306Thr). To determine whether this mutation arose from a common ancestor, we analyzed six short tandem repeat (STR) markers spanning theTMPRSS3gene. In four families, we observed linkage disequilibrium between p.Ala306Thr and STR markers. Our results indicate that mutations inTMPRSS3account for about 4.6% (7/151) of Chinese ARNSHL cases lacking mutations inSLC26A4orGJB2and that the recurrentTMPRSS3mutation p.Ala306Thr is likely to be a founder mutation.

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Domínguez-Ruiz, María, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar et al. "Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases". Genes 15, n. 7 (19 luglio 2024): 951. http://dx.doi.org/10.3390/genes15070951.

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Abstract (sommario):

Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the KARS1, HARS2, LARS2 and NARS2 genes) results in a great variety of phenotypes ranging from non-syndromic hearing impairment (NSHI) to very complex syndromes, with a predominance of neurological signs. The diversity of roles that are played by these moonlighting enzymes and the fact that most pathogenic variants are missense and affect different domains of these proteins in diverse compound heterozygous combinations make it difficult to establish genotype–phenotype correlations. We used a targeted gene-sequencing panel to investigate the presence of pathogenic variants in those four genes in cohorts of 175 Spanish and 18 Colombian familial cases with non-DFNB1 autosomal recessive NSHI. Disease-associated variants were found in five cases. Five mutations were novel as follows: c.766C>T in KARS1, c.475C>T, c.728A>C and c.1012G>A in HARS2, and c.795A>G in LARS2. We provide audiograms from patients at different ages to document the evolution of the hearing loss, which is mostly prelingual and progresses from moderate/severe to profound, the middle frequencies being more severely affected. No additional clinical sign was observed in any affected subject. Our results confirm the involvement of KARS1 in DFNB89 NSHI, for which until now there was limited evidence.

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Le Nabec, Anaïs, Clara Blotas, Alinéor Briset, Mégane Collobert, Claude Férec e Stéphanie Moisan. "3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2". International Journal of Molecular Sciences 23, n. 13 (23 giugno 2022): 6964. http://dx.doi.org/10.3390/ijms23136964.

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The human genome is covered by 8% of candidate cis-regulatory elements. The identification of distal acting regulatory elements and an understanding of their action are crucial to determining their key role in gene expression. Disruptions of such regulatory elements and/or chromatin conformation are likely to play a critical role in human genetic diseases. Non-syndromic hearing loss (i.e., DFNB1) is mostly due to GJB2 (Gap Junction Beta 2) variations and DFNB1 large deletions. Although several GJB2 cis-regulatory elements (CREs) have been described, GJB2 gene regulation remains not well understood. We investigated the endogenous effect of these CREs with CRISPR (clustered regularly interspaced short palindromic repeats) disruptions and observed GJB2 expression. To decipher the GJB2 regulatory landscape, we used the 4C-seq technique and defined new chromatin contacts inside the DFNB1 locus, which permit DNA loops and long-range regulation. Moreover, through ChIP-PCR, we determined the involvement of the MEIS1 transcription factor in GJB2 expression. Taken together, the results of our study enable us to describe the 3D DFNB1 regulatory landscape.

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Posukh, Olga L., Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov e Michael I. Voevoda. "Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)". Genes 10, n. 6 (5 giugno 2019): 429. http://dx.doi.org/10.3390/genes10060429.

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Abstract (sommario):

Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic contribution are widely varying in different populations. Significant efforts have been made worldwide to define DFNB1A molecular epidemiology, but this issue still remains open for some populations. The main aim of study is to estimate the DFNB1A prevalence and GJB2 mutational spectrum in Tuvinians—an indigenous population of the Tyva Republic (Southern Siberia, Russia). Sanger sequencing was applied to analysis of coding (exon 2) and non-coding regions of GJB2 in a cohort of Tuvinian patients with hearing impairments (n = 220) and ethnically matched controls (n = 157). Diagnosis of DFNB1A was established for 22.3% patients (28.8% of familial vs 18.6% of sporadic cases). Our results support that patients with monoallelic GJB2 mutations (8.2%) are coincidental carriers. Recessive mutations p.Trp172Cys, c.-23+1G>A, c.235delC, c.299_300delAT, p.Val37Ile and several benign variants were found in examined patients. A striking finding was a high prevalence of rare variant p.Trp172Cys (c.516G>C) in Tuvinians accounting for 62.9% of all mutant GJB2 alleles and a carrier frequency of 3.8% in controls. All obtained data provide important targeted information for genetic counseling of affected Tuvinian families and enrich current information on variability of GJB2 worldwide.

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Oziębło, Dominika, Anita Obrycka, Artur Lorens, Henryk Skarżyński e Monika Ołdak. "Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants". Journal of Clinical Medicine 9, n. 1 (15 gennaio 2020): 228. http://dx.doi.org/10.3390/jcm9010228.

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Almost 60% of children with profound prelingual hearing loss (HL) have a genetic determinant of deafness, most frequently two DFNB1 locus (GJB2/GJB6 genes) recessive pathogenic variants. Only few studies combine HL etiology with cochlear implantation (CI) outcome. Patients with profound prelingual HL who received a cochlear implant before 24 months of age and had completed DFNB1 genetic testing were enrolled in the study (n = 196). LittlEARS questionnaire scores were used to assess auditory development. Our data show that children with DFNB1-related HL (n = 149) had good outcome from the CI (6.85, 22.24, and 28 scores at 0, 5, and 9 months post-CI, respectively). A better auditory development was achieved in patients who receive cochlear implants before 12 months of age. Children without residual hearing presented a higher rate of auditory development than children with responses in hearing aids over a wide frequency range prior to CI, but both groups reached a similar level of auditory development after 9 months post-CI. Our data shed light upon the benefits of CI in the homogenous group of patients with HL due to DFNB1 locus pathogenic variants and clearly demonstrate that very early CI is the most effective treatment method in this group of patients.

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Nejatizadeh, Azim, MasoudAkbarzadeh Laleh, Marzieh Naseri, AliAkbar Poursadegh Zonouzi, AhmadPoursadegh Zonouzi, Marjan Masoudi, Najmeh Ahangari e Leila Shams. "Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran". Journal of Research in Medical Sciences 22, n. 1 (2017): 99. http://dx.doi.org/10.4103/jrms.jrms_976_16.

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31

Sakaguchi, N., F. Watari, A. Yokoyama e Y. Nodasaka. "High-resolution electron microscopy of multi-wall carbon nanotubes in the subcutaneous tissue of rats". Journal of Electron Microscopy 57, n. 5 (25 luglio 2008): 159–64. http://dx.doi.org/10.1093/jmicro/dfn016.

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32

Keats, Bronya J. B., e Charles I. Berlin. "Genomics and Hearing Impairment". Genome Research 9, n. 1 (1 gennaio 1999): 7–16. http://dx.doi.org/10.1101/gr.9.1.7.

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Abstract (sommario):

Hearing impairment is clinically and genetically heterogeneous. There are >400 disorders in which hearing impairment is a characteristic of the syndrome, and family studies demonstrate that there are at least 30 autosomal loci for nonsyndromic hearing impairment. The genes that have been identified encode diaphanous (HDIA1), α-tectorin (TECTA), the transcription factorPOU4F3, connexin 26 (GJB2), and two unconventional myosins (MYO7A and MYO15), and four novel proteins (PDS,COCH, DFNA5, DFNB9). The same clinical phenotype in hearing-impaired individuals, even those within the same family, can result from mutations in different genes. Conversely, mutations in the same gene can result in a variety of clinical phenotypes with different modes of inheritance. For example, mutations in the gene encoding MYO7A cause Usher syndrome type IB, autosomal-recessive nonsyndromic hearing impairment (DFNB2), and autosomal-dominant nonsyndromic hearing impairment (DFNA11). Additionally, the mouse ortholog of theMYO7A gene is the shaker-1 gene. Mouse models such asshaker-1 have facilitated the identification of genes that cause hearing impairment in humans. The availability of high-resolution maps of the human and mouse genomes and new technologies for gene identification are advancing molecular understanding of hearing impairment and the complex mechanisms of the auditory system.

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Dahl, John P., Michael E. Stadler, Benjamin Y. Huang, Di Miao, Mihir R. Patel, Oliver F. Adunka, Craig A. Buchman, Jason P. Fine e Carlton J. Zdanski. "Connexin-Related (DFNB1) Hearing Loss". Otolaryngology–Head and Neck Surgery 152, n. 5 (12 gennaio 2015): 889–96. http://dx.doi.org/10.1177/0194599814566399.

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34

Volo, T., C. Morando, E. Leonardi, S. Ghiselli, E. Emanuelli, A. Murgia, G. Babighian e E. Orzan. "A028 Unraveling DFNB1 phenotype variability". International Journal of Pediatric Otorhinolaryngology 75 (maggio 2011): 6. http://dx.doi.org/10.1016/s0165-5876(11)70029-5.

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35

Dodson, Kelley M., Susan H. Blanton, Katherine O. Welch, Virginia W. Norris, Regina L. Nuzzo, Jacob A. Wegelin, Ruth S. Marin, Walter E. Nance, Arti Pandya e Kathleen S. Arnos. "Vestibular dysfunction in DFNB1 deafness". American Journal of Medical Genetics Part A 155, n. 5 (4 aprile 2011): 993–1000. http://dx.doi.org/10.1002/ajmg.a.33828.

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36

Safka Brozkova, Dana, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková et al. "The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region". Genes 12, n. 5 (1 maggio 2021): 684. http://dx.doi.org/10.3390/genes12050684.

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Abstract (sommario):

Hearing loss is a genetically heterogeneous sensory defect, and the frequent causes are biallelic pathogenic variants in the GJB2 gene. However, patients carrying only one heterozygous pathogenic (monoallelic) GJB2 variant represent a long-lasting diagnostic problem. Interestingly, previous results showed that individuals with a heterozygous pathogenic GJB2 variant are two times more prevalent among those with hearing loss compared to normal-hearing individuals. This excess among patients led us to hypothesize that there could be another pathogenic variant in the GJB2 region/DFNB1 locus. A hitherto undiscovered variant could, in part, explain the cause of hearing loss in patients and would mean reclassifying them as patients with GJB2 biallelic pathogenic variants. In order to detect an unknown causal variant, we examined 28 patients using NGS with probes that continuously cover the 0.4 Mb in the DFNB1 region. An additional 49 patients were examined by WES to uncover only carriers. We did not reveal a second pathogenic variant in the DFNB1 region. However, in 19% of the WES-examined patients, the cause of hearing loss was found to be in genes other than the GJB2. We present evidence to show that a substantial number of patients are carriers of the GJB2 pathogenic variant, albeit only by chance.

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37

Kraatari-Tiri, Minna, Maria K. Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Häkli e Elisa Rahikkala. "Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants". Journal of Clinical Medicine 11, n. 7 (26 marzo 2022): 1837. http://dx.doi.org/10.3390/jcm11071837.

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Sensorineural hearing loss (SNHL) is one of the most common sensory deficits worldwide, and genetic factors contribute to at least 50–60% of the congenital hearing loss cases. The transmembrane channel-like protein 1 (TMC1) gene has been linked to autosomal recessive (DFNB7/11) and autosomal dominant (DFNA36) non-syndromic hearing loss, and it is a relatively common genetic cause of SNHL. Here, we report eight Finnish families with 11 affected family members with either recessively inherited homozygous or compound heterozygous TMC1 variants associated with congenital moderate-to-profound hearing loss, or a dominantly inherited heterozygous TMC1 variant associated with postlingual progressive hearing loss. We show that the TMC1 c.1534C>T, p.(Arg512*) variant is likely a founder variant that is enriched in the Finnish population. We describe a novel recessive disease-causing TMC1 c.968A>G, p.(Tyr323Cys) variant. We also show that individuals in this cohort who were diagnosed early and received timely hearing rehabilitation with hearing aids and cochlear implants (CI) have reached good speech perception in noise. Comparison of the genetic data with the outcome of CI rehabilitation increases our understanding of the extent to which underlying pathogenic gene variants explain the differences in CI rehabilitation outcomes.

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Pshennikova, Vera G., Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova et al. "Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)". Scientific World Journal 2019 (20 marzo 2019): 1–9. http://dx.doi.org/10.1155/2019/5198931.

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Abstract (sommario):

In silico predictive software allows assessing the effect of amino acid substitutions on the structure or function of a protein without conducting functional studies. The accuracy of in silico pathogenicity prediction tools has not been previously assessed for variants associated with autosomal recessive deafness 1A (DFNB1A). Here, we identify in silico tools with the most accurate clinical significance predictions for missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes associated with DFNB1A. To evaluate accuracy of selected in silico tools (SIFT, FATHMM, MutationAssessor, PolyPhen-2, CONDEL, MutationTaster, MutPred, Align GVGD, and PROVEAN), we tested nine missense variants with previously confirmed clinical significance in a large cohort of deaf patients and control groups from the Sakha Republic (Eastern Siberia, Russia): Сх26: p.Val27Ile, p.Met34Thr, p.Val37Ile, p.Leu90Pro, p.Glu114Gly, p.Thr123Asn, and p.Val153Ile; Cx30: p.Glu101Lys; Cx31: p.Ala194Thr. We compared the performance of the in silico tools (accuracy, sensitivity, and specificity) by using the missense variants in GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) genes associated with DFNB1A. The correlation coefficient (r) and coefficient of the area under the Receiver Operating Characteristic (ROC) curve as alternative quality indicators of the tested programs were used. The resulting ROC curves demonstrated that the largest coefficient of the area under the curve was provided by three programs: SIFT (AUC = 0.833, p = 0.046), PROVEAN (AUC = 0.833, p = 0.046), and MutationAssessor (AUC = 0.833, p = 0.002). The most accurate predictions were given by two tested programs: SIFT and PROVEAN (Ac = 89%, Se = 67%, Sp = 100%, r = 0.75, AUC = 0.833). The results of this study may be applicable for analysis of novel missense variants of the GJB2 (Cx26), GJB6 (Cx30), and GJB3 (Cx31) connexin genes.

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Dobric, Bojana, Danijela Radivojevic, Jovana Jecmenica, Pavlos Fanis, Vassos Neocleous, Leonidas Phylactou e Marina Djurisic. "Prevalence of variants in DFNB1 locus in Serbian patients with autosomal recessive non-syndromic hearing loss". Genetika 54, n. 1 (2022): 447–56. http://dx.doi.org/10.2298/gensr2201447d.

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Abstract (sommario):

Hearing impairment is the most common sensorineural disorder in humans and many genes have been identified as causable. Despite genetic heterogeneity, a single locus, DFNB1, that contains genes GJB2 and GJB6, accounts for up to 50% of all cases. Aim of this study was to determine prevalence of identified variants in DFNB1 locus in patients from Serbia with autosomal recessive non-syndromic hearing loss (ARNSHL). In this study, PCR-ARMS and direct sequencing of the GJB2 and GJB6 genes was carried out in 54 probands and relatives from Serbia with nonsyndromic hearing loss (NSHL). In 31 patients a series of variants have been identified in the GJB2 gene. Fully characterized genotype with bi-allelic mutations was observed in 40.74% of the probands (22/54). The remaining probands were either identified in the heterozygote form (9/54) or were identified with no (23/54) causing variants for the tested genes. A total of seven different mutations were found with following allele frequencies: c.35delG (31.48%), c.71G>A (6.48%), c.313_326del (5.56%), c.101T>C (1.85%), c.380G>A (1.85%), c.79G>A (0.92%) and c.269T>C (0.92%). The molecular basis of NSHL in patients from Serbia was analyzed for the first time in this study. The results have important implication to the development of the genetic diagnosis of deafness, genetic counseling, and early treatment in our country. Also, our findings contribute to the knowledge of geographic distribution of DFNB1 mutations.

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Riazuddin, Saima, Caley M. Castelein, Zubair M. Ahmed, Anil K. Lalwani, Mary A. Mastroianni, Sadaf Naz, Tenesha N. Smith et al. "Dominant modifier DFNM1 suppresses recessive deafness DFNB26". Nature Genetics 26, n. 4 (dicembre 2000): 431–34. http://dx.doi.org/10.1038/82558.

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41

Guo, Yingshi, Valentina Pilipenko, Lynne H. Y. Lim, Hongwei Dou, Liane Johnson, C. R. Srikumari Srisailapathy, Arabandi Ramesh, Daniel I. Choo, Richard J. H. Smith e John H. Greinwald. "Refining the DFNB17 interval in consanguineous Indian families". Molecular Biology Reports 31, n. 2 (giugno 2004): 97–105. http://dx.doi.org/10.1023/b:mole.0000031385.64105.61.

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42

De Leenheer, Els M. R., Patrick L. M. Huygen, Richard J. H. Smith, Sigrid Wayne e W. R. J. Cremers. "The DFNA10 Phenotype". Annals of Otology, Rhinology & Laryngology 110, n. 9 (settembre 2001): 861–66. http://dx.doi.org/10.1177/000348940111000910.

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Abstract (sommario):

We present a detailed analysis of the DFNA10 phenotype based on data from 25 hearing-impaired persons coming from a large American pedigree segregating for deafness at the DFNA10 locus (chromosome 6q22.3–23.2). Cross-sectional analysis of air conduction threshold—on—age data from all available last-visit audiograms (linear regression analysis, age over 15 years) showed progression of hearing loss at a rate of 0.6 dB/y over all frequencies, with a flat to gently sloping age-corrected threshold of about 50 dB. The results were significant at 0.25, 4, and 8 kHz, but only if corrections for presbycusis were not included. Longitudinal threshold analysis performed in 1 case, covering ages 6 to 32 years, showed progression of hearing loss at a rate of 2 to 3 dB/y over 0.25 to 8 kHz. Nonlinear regression analysis was performed on phoneme discrimination scores with use of sigmoidal dose-response curves with variable slope. On the basis of these data, the hearing loss phenotype in this American DFNA10 family can be described as postlingual, initially progressive, and resulting, without the influence of presbycusis, in largely stable, flat sensorineural deafness.

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43

Simon, François, Françoise Denoyelle e Mathieu Beraneck. "Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence". Journal of Vestibular Research 31, n. 4 (28 luglio 2021): 315–21. http://dx.doi.org/10.3233/ves-200789.

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Abstract (sommario):

BACKGROUND: Menière disease (MD) and SLC26A4 related deafness (Pendred syndrome (PS) or DFNB4) are two different inner ear disorders which present with fluctuating and progressive hearing loss, which could be a direct consequence of endolymphatic hydrops. OBJECTIVE: To present similarities between both pathologies and explore how the concept of hydrops may be applied to PS/DFNB4. METHODS: Review of the literature on MD, PS/DFNB4 and mouse model of PS/DFNB4. RESULTS: MD and PS/DFNB4 share a number of similarities such as fluctuating and progressive hearing loss, acute episodes with vertigo and tinnitus, MRI and histological evidence of endolymphatic hydrops (although with different underlying mechanisms). MD is usually diagnosed during the fourth decade of life whereas PS/DFNB4 is congenital. The PS/DFNB4 mouse models have shown that biallelic slc26a4 mutations lead to Na+ and water retention in the endolymph during the perinatal period, which in turn induces degeneration of the stria vascularis and hearing loss. Crossing clinical/imagery characteristics and animal models, evidence seems to support the hypothesis of PS being a foetal hydrops. CONCLUSIONS: When understanding PS/DFNB4 as a developmental hydrops, treatments used in MD could be repositioned to PS.

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Romanov, Georgii P., Anna A. Smirnova, Vladimir I. Zamyatin, Aleksey M. Mukhin, Fedor V. Kazantsev, Vera G. Pshennikova, Fedor M. Teryutin et al. "Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population". Biology 11, n. 2 (7 febbraio 2022): 257. http://dx.doi.org/10.3390/biology11020257.

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Abstract (sommario):

An increase in the prevalence of autosomal recessive deafness 1A (DFNB1A) in populations of European descent was shown to be promoted by assortative marriages among deaf people. Assortative marriages became possible with the widespread introduction of sign language, resulting in increased genetic fitness of deaf individuals and, thereby, relaxing selection against deafness. However, the effect of this phenomenon was not previously studied in populations with different genetic structures. We developed an agent-based computer model for the analysis of the spread of DFNB1A. Using this model, we tested the impact of different intensities of selection pressure against deafness in an isolated human population over 400 years. Modeling of the “purifying” selection pressure on deafness (“No deaf mating” scenario) resulted in a decrease in the proportion of deaf individuals and the pathogenic allele frequency. Modeling of the “relaxed” selection (“Assortative mating” scenario) resulted in an increase in the proportion of deaf individuals in the first four generations, which then quickly plateaued with a subsequent decline and a decrease in the pathogenic allele frequency. The results of neutral selection pressure modeling (“Random mating” scenario) showed no significant changes in the proportion of deaf individuals or the pathogenic allele frequency after 400 years.

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Chen, Achih H., Dietrich A. Stephan, Tama Hasson, Kunihiro Fukushima, Christiana M. Nelissen, Arthur F. Chen, Andrew I. Jun, Arabandi Ramesh, Guy Van Camp e Richard J. H. Smith. "MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15". Archives of Otolaryngology–Head & Neck Surgery 127, n. 8 (1 agosto 2001): 921. http://dx.doi.org/10.1001/archotol.127.8.921.

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46

Oonk, A. M. M., A. J. Beynon, T. A. Peters, H. P. M. Kunst, R. J. C. Admiraal, H. Kremer, B. Verbist e R. J. E. Pennings. "Vestibular function and temporal bone imaging in DFNB1". Hearing Research 327 (settembre 2015): 227–34. http://dx.doi.org/10.1016/j.heares.2015.07.009.

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47

Tona, Risa, Ivan A. Lopez, Cristina Fenollar-Ferrer, Rabia Faridi, Claudio Anselmi, Asma A. Khan, Mohsin Shahzad et al. "Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness". Genes 11, n. 10 (24 settembre 2020): 1122. http://dx.doi.org/10.3390/genes11101122.

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Abstract (sommario):

Human pathogenic variants of TBC1D24 are associated with clinically heterogeneous phenotypes, including recessive nonsyndromic deafness DFNB86, dominant nonsyndromic deafness DFNA65, seizure accompanied by deafness, a variety of isolated seizure phenotypes and DOORS syndrome, characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability and seizures. Thirty-five pathogenic variants of human TBC1D24 associated with deafness have been reported. However, functions of TBC1D24 in the inner ear and the pathophysiology of TBC1D24-related deafness are unknown. In this study, a novel splice-site variant of TBC1D24 c.965 + 1G > A in compound heterozygosity with c.641G > A p.(Arg214His) was found to be segregating in a Pakistani family. Affected individuals exhibited, either a deafness-seizure syndrome or nonsyndromic deafness. In human temporal bones, TBC1D24 immunolocalized in hair cells and spiral ganglion neurons, whereas in mouse cochlea, Tbc1d24 expression was detected only in spiral ganglion neurons. We engineered mouse models of DFNB86 p.(Asp70Tyr) and DFNA65 p.(Ser178Leu) nonsyndromic deafness and syndromic forms of deafness p.(His336Glnfs*12) that have the same pathogenic variants that were reported for human TBC1D24. Unexpectedly, no auditory dysfunction was detected in Tbc1d24 mutant mice, although homozygosity for some of the variants caused seizures or lethality. We provide some insightful supporting data to explain the phenotypic differences resulting from equivalent pathogenic variants of mouse Tbc1d24 and human TBC1D24.

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Li, Peipei, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu e Jiangang Gao. "Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear". Neural Plasticity 2018 (5 luglio 2018): 1–10. http://dx.doi.org/10.1155/2018/4372913.

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Abstract (sommario):

Myo3a is expressed in cochlear hair cells and retinal cells and is responsible for human recessive hereditary nonsyndromic deafness (DFNB30). To investigate the mechanism of DFNB30-type deafness, we established a mouse model of Myo3a kinase domain Y137C mutation by using CRISPR/Cas9 system. No difference in hearing between 2-month-old Myo3a mutant mice and wild-type mice was observed. The hearing threshold of the ≥6-month-old mutant mice was significantly elevated compared with that of the wild-type mice. We observed degeneration in the inner ear hair cells of 6-month-old Myo3a mutant mice, and the degeneration became more severe at the age of 12 months. We also found structural abnormality in the cochlear hair cell stereocilia. Our results showed that Myo3a is essential for normal hearing by maintaining the intact structure of hair cell stereocilia, and the kinase domain plays a critical role in the normal functions of Myo3a. This mouse line is an excellent model for studying DFNB30-type deafness in humans.

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Pennings, Ronald J. E., Vedat Topsakal, Lisa Astuto, Arjan P. M. de Brouwer, Mariette Wagenaar, Patrick L. M. Huygen, William J. Kimberling, August F. Deutman, Hannie Kremer e Cor W. R. J. Cremers. "Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12)". Otology & Neurotology 25, n. 5 (settembre 2004): 699–706. http://dx.doi.org/10.1097/00129492-200409000-00009.

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50

Yasunaga, T., e T. Wakabayashi. "Evaluation of a 2k CCD camera with an epitaxially grown CsI scintillator for recording energy-filtered electron cryo-micrographs". Journal of Electron Microscopy 57, n. 3 (3 marzo 2008): 101–12. http://dx.doi.org/10.1093/jmicro/dfn006.

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