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Data publikacji: 25 maja 2024

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1

Millán, José M., Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo i Carmen Ayuso. "An Update on the Genetics of Usher Syndrome". Journal of Ophthalmology 2011 (2011): 1–8. http://dx.doi.org/10.1155/2011/417217.

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Usher syndrome (USH) is an autosomal recessive disease characterized by hearing loss, retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous and is the most common cause underlying deafness and blindness of genetic origin. Clinically, USH is divided into three types. Usher type I (USH1) is the most severe form and is characterized by severe to profound congenital deafness, vestibular areflexia, and prepubertal onset of progressive RP. Type II (USH2) displays moderate to severe hearing loss, absence of vestibular dysfunction, and later onset of retinal degeneration. Type III (USH3) shows progressive postlingual hearing loss, variable onset of RP, and variable vestibular response. To date, five USH1 genes have been identified:MYO7A(USH1B),CDH23(USH1D),PCDH15(USH1F),USH1C(USH1C), andUSH1G(USH1G). Three genes are involved in USH2, namely,USH2A(USH2A),GPR98(USH2C), andDFNB31(USH2D). USH3 is rare except in certain populations, and the gene responsible for this type isUSH3A.

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Abeshi, Andi, Alice Bruson, Tommaso Beccari, Munis Dundar, Leonardo Colombo i Matteo Bertelli. "Genetic testing for Usher syndrome". EuroBiotech Journal 1, s1 (27.10.2017): 108–10. http://dx.doi.org/10.24190/issn2564-615x/2017/s1.34.

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Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Usher syndrome (USH). USH is mostly transmitted in an autosomal recessive manner and is caused by variations in the ADGRV1, CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN genes. Prevalence is estimated to be 1:30,000. Clinical diagnosis is based on audiogram, vestibular tests, visual acuity test, fundus examination, color test, optical coherence tomography and electroretinography. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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3

Fritze, Jacques S., Felizitas F. Stiehler i Uwe Wolfrum. "Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome". International Journal of Molecular Sciences 24, nr 24 (18.12.2023): 17608. http://dx.doi.org/10.3390/ijms242417608.

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Pre-mRNA splicing is an essential process orchestrated by the spliceosome, a dynamic complex assembled stepwise on pre-mRNA. We have previously identified that USH1G protein SANS regulates pre-mRNA splicing by mediating the intranuclear transfer of the spliceosomal U4/U6.U5 tri-snRNP complex. During this process, SANS interacts with the U4/U6 and U5 snRNP-specific proteins PRPF31 and PRPF6 and regulates splicing, which is disturbed by variants of USH1G/SANS causative for human Usher syndrome (USH), the most common form of hereditary deaf–blindness. Here, we aim to gain further insights into the molecular interaction of the splicing molecules PRPF31 and PRPF6 to the CENTn domain of SANS using fluorescence resonance energy transfer assays in cells and in silico deep learning-based protein structure predictions. This demonstrates that SANS directly binds via two distinct conserved regions of its CENTn to the two PRPFs. In addition, we provide evidence that these interactions occur sequentially and a conformational change of an intrinsically disordered region to a short α-helix of SANS CENTn2 is triggered by the binding of PRPF6. Furthermore, we find that pathogenic variants of USH1G/SANS perturb the binding of SANS to both PRPFs, implying a significance for the USH1G pathophysiology.

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4

Maria Oonk, Anne Marthe, Ramon A. C. van Huet, Joop M. Leijendeckers, Jaap Oostrik, Hanka Venselaar, Erwin van Wijk, Andy Beynon i in. "Nonsyndromic Hearing Loss Caused by USH1G Mutations". Ear and Hearing 36, nr 2 (2015): 205–11. http://dx.doi.org/10.1097/aud.0000000000000095.

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5

He, Yunyun, Jianchao Li i Mingjie Zhang. "Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation". Cell Reports 29, nr 4 (październik 2019): 974–86. http://dx.doi.org/10.1016/j.celrep.2019.09.027.

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6

Castiglione, Alessandro, i Claes Möller. "Usher Syndrome". Audiology Research 12, nr 1 (11.01.2022): 42–65. http://dx.doi.org/10.3390/audiolres12010005.

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Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914. USH has been grouped into three main clinical types: 1, 2, and 3, which are caused by mutations in different genes and are further divided into different subtypes. To date, nine causative genes have been identified and confirmed as responsible for the syndrome when mutated: MYO7A, USH1C, CDH23, PCDH15, and USH1G (SANS) for Usher type 1; USH2A, ADGRV1, and WHRN for Usher type 2; CLRN1 for Usher type 3. USH is inherited in an autosomal recessive pattern. Digenic, bi-allelic, and polygenic forms have also been reported, in addition to dominant or nonsyndromic forms of genetic mutations. This narrative review reports the causative forms, diagnosis, prognosis, epidemiology, rehabilitation, research, and new treatments of USH.

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7

Schietroma, Cataldo, Karine Parain, Amrit Estivalet, Asadollah Aghaie, Jacques Boutet de Monvel, Serge Picaud, José-Alain Sahel, Muriel Perron, Aziz El-Amraoui i Christine Petit. "Usher syndrome type 1–associated cadherins shape the photoreceptor outer segment". Journal of Cell Biology 216, nr 6 (11.05.2017): 1849–64. http://dx.doi.org/10.1083/jcb.201612030.

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Usher syndrome type 1 (USH1) causes combined hearing and sight defects, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive. The USH1 protein complex is associated with calyceal processes, which are microvilli of unknown function surrounding the base of the photoreceptor outer segment. We show that in Xenopus tropicalis, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein). Protocadherin-15 deficiency, obtained by a knockdown approach, leads to impaired photoreceptor function and abnormally shaped photoreceptor outer segments. Rod basal outer disks displayed excessive outgrowth, and cone outer segments were curved, with lamellae of heterogeneous sizes, defects also observed upon knockdown of Cdh23, encoding cadherin-23 (USH1D protein). The calyceal processes were virtually absent in cones and displayed markedly reduced F-actin content in rods, suggesting that protocadherin-15–containing links are essential for their development and/or maintenance. We propose that calyceal processes, together with their associated links, control the sizing of rod disks and cone lamellae throughout their daily renewal.

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8

Yildirim, Adem, Sina Mozaffari-Jovin, Ann-Kathrin Wallisch, Jessica Schäfer, Sebastian E. J. Ludwig, Henning Urlaub, Reinhard Lührmann i Uwe Wolfrum. "SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes". Nucleic Acids Research 49, nr 10 (22.05.2021): 5845–66. http://dx.doi.org/10.1093/nar/gkab386.

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Abstract Splicing is catalyzed by the spliceosome, a compositionally dynamic complex assembled stepwise on pre-mRNA. We reveal links between splicing machinery components and the intrinsically disordered ciliopathy protein SANS. Pathogenic mutations in SANS/USH1G lead to Usher syndrome—the most common cause of deaf-blindness. Previously, SANS was shown to function only in the cytosol and primary cilia. Here, we have uncovered molecular links between SANS and pre-mRNA splicing catalyzed by the spliceosome in the nucleus. We show that SANS is found in Cajal bodies and nuclear speckles, where it interacts with components of spliceosomal sub-complexes such as SF3B1 and the large splicing cofactor SON but also with PRPFs and snRNAs related to the tri-snRNP complex. SANS is required for the transfer of tri-snRNPs between Cajal bodies and nuclear speckles for spliceosome assembly and may also participate in snRNP recycling back to Cajal bodies. SANS depletion alters the kinetics of spliceosome assembly, leading to accumulation of complex A. SANS deficiency and USH1G pathogenic mutations affects splicing of genes related to cell proliferation and human Usher syndrome. Thus, we provide the first evidence that splicing dysregulation may participate in the pathophysiology of Usher syndrome.

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9

Overlack, Nora, Tina Maerker, Martin Latz, Kerstin Nagel-Wolfrum i Uwe Wolfrum. "SANS (USH1G) expression in developing and mature mammalian retina". Vision Research 48, nr 3 (luty 2008): 400–412. http://dx.doi.org/10.1016/j.visres.2007.08.021.

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10

Weil, D. "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin". Human Molecular Genetics 12, nr 5 (1.03.2003): 463–71. http://dx.doi.org/10.1093/hmg/ddg051.

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11

Cuzzuol, Beatriz Rocha, Jonathan Santos Apolonio, Ronaldo Teixeira da Silva Júnior, Lorena Sousa de Carvalho, Luana Kauany de Sá Santos, Luciano Hasimoto Malheiro, Marcel Silva Luz i in. "Usher syndrome: Genetic diagnosis and current therapeutic approaches". World Journal of Otorhinolaryngology 11, nr 1 (19.01.2024): 1–17. http://dx.doi.org/10.5319/wjo.v11.i1.1.

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Usher Syndrome (USH) is the most common deaf-blind syndrome, affecting approximately 1 in 6000 people in the deaf population. This genetic condition is characterized by a combination of hearing loss (HL), retinitis pigmentosa, and, in some cases, vestibular areflexia. Among the subtypes of USH, USH type 1 is considered the most severe form, presenting profound bilateral congenital deafness, vestibular areflexia, and early onset RP. USH type 2 is the most common form, exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high frequencies. Conversely, type 3 is the rarest, initially manifesting mild symptoms during childhood that become more prominent in the first decades of life. The dual impact of USH on both visual and auditory senses significantly impairs patients’ quality of life, restricting their daily activities and interactions with society. To date, 9 genes have been confirmed so far for USH: MYO7A , USH1C , CDH23 , PCDH15 , USH1G , USH2A , ADGRV1 , WHRN and CLRN1 . These genes are inherited in an autosomal recessive manner and encode proteins expressed in the inner ear and retina, leading to functional loss. Although non-genetic methods can assist in patient triage and disease extension evaluation, genetic and molecular tests play a pivotal role in providing genetic counseling, enabling appropriate gene therapy, and facilitating timely cochlear implantation (CI). The CRISPR/Cas9 system and viral-based gene replacement therapy have recently emerged as highly promising techniques for treating USH. Regarding drug therapy, PTC-124 and Nb54 have been identified as promising drug interventions for genetic HL in USH. Simultaneously, CI has proven to be critical in the restoration of hearing. This review aims to summarize the genetic and molecular diagnosis of USH and highlight the importance of early diagnosis in guiding appropriate treatment strategies and improving patient prognosis.

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12

Mustapha, Mirna, Éliane Chouery, Delphine Torchard-Pagnez, Sylvie Nouaille, Awni Khrais, Fouad N. Sayegh, André Mégarbané i in. "A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24–25". Human Genetics 110, nr 4 (12.03.2002): 348–50. http://dx.doi.org/10.1007/s00439-002-0690-x.

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13

Horák, P., A. Knoll, C. André, E. Cadieu i J. Dvořák. "Polymorphism analysis and RH mapping of the canine Usher syndrome 1G (USH1G) gene to CFA9". Animal Genetics 36, nr 3 (czerwiec 2005): 270–71. http://dx.doi.org/10.1111/j.1365-2052.2005.01278.x.

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14

Ammar-Khodja, Fatima, Valérie Faugère, David Baux, Claire Giannesini, Susana Léonard, Mohamed Makrelouf, Rahia Malek i in. "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, nr 4 (lipiec 2009): 174–79. http://dx.doi.org/10.1016/j.ejmg.2009.03.018.

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15

Sergeev, Yuri V., i Annapurna Kuppa. "Homology modeling and global computational mutagenesis of human myosin VIIa". Journal of Analytical & Pharmaceutical Research 10, nr 1 (4.03.2021): 41–48. http://dx.doi.org/10.15406/japlr.2021.10.00364.

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Usher syndrome type 1B (USH1B) is a genetic disorder caused by mutations in the unconventional Myosin VIIa (MYO7A) protein. USH1B is characterized by hearing loss due to abnormalities in the inner ear and vision loss due to retinitis pigmentosa. Here, we present the model of human MYO7A homodimer, built using homology modeling, and refined using 5 ns molecular dynamics in water. Global computational mutagenesis was applied to evaluate the effect of missense mutations that are critical for maintaining protein structure and stability of MYO7A in inherited eye disease. We found that 43.26% (77 out of 178 in HGMD) and 41.9% (221 out of 528 in ClinVar) of the disease-related missense mutations were associated with higher protein structure destabilizing effects. Overall, most mutations destabilizing the MYO7A protein were found to associate with USH1 and USH1B. Particularly, motor domain and MyTH4 domains were found to be most susceptible to mutations causing the USH1B phenotype. Our work contributes to the understanding of inherited disease from the atomic level of protein structure and analysis of the impact of genetic mutations on protein stability and genotype-to-phenotype relationships in human disease.

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16

Borgese, Nica, Andrés Guillén-Samander, Sara Francesca Colombo, Giulia Mancassola, Federica Di Berardino, Diego Zanetti i Paola Carrera. "Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss". Biomedicines 11, nr 10 (28.09.2023): 2657. http://dx.doi.org/10.3390/biomedicines11102657.

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Sensorineural age-related hearing loss affects a large proportion of the elderly population, and has both environmental and genetic causes. Notwithstanding increasing interest in this debilitating condition, the genetic risk factors remain largely unknown. Here, we report the case of two sisters affected by isolated profound sensorineural hearing loss after the age of seventy. Genomic DNA sequencing revealed that the siblings shared two monoallelic variants in two genes linked to Usher Syndrome (USH genes), a recessive disorder of the ear and the retina: a rare pathogenic truncating variant in USH1G and a previously unreported missense variant in ADGRV1. Structure predictions suggest a negative effect on protein stability of the latter variant, allowing its classification as likely pathogenic according to American College of Medical Genetics criteria. Thus, the presence in heterozygosis of two recessive alleles, which each cause syndromic deafness, may underlie digenic inheritance of the age-related non-syndromic hearing loss of the siblings, a hypothesis that is strengthened by the knowledge that the two genes are integrated in the same functional network, which underlies stereocilium development and organization. These results enlarge the spectrum and complexity of the phenotypic consequences of USH gene mutations beyond the simple Mendelian inheritance of classical Usher syndrome.

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Иванова, М. Е., А. М. Демчинский, В. С. Каймонов, И. В. Миронова, И. В. Володин, Р. А. Зинченко i В. В. Стрельников. "Usher syndrome gene mutation spectrum in Russian patients". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», nr 8(217) (31.08.2020): 38–39. http://dx.doi.org/10.25557/2073-7998.2020.08.38-39.

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Изучение спектра мутаций и совершенствование диагностики синдрома Ашера (СА) особо актуальны в связи с разрабатываемыми подходами к генной терапии заболевания. Среди 46 пациентов с признаками СА патогенные мутации выявлены нами у 40 (87%) пациентов. СА I и II типов определены у 26% и 57% пробандов исходной выборки, соответственно. У пациентов с СА I выявлены мутации в генах MYO7A (73%), CDH23 (7%), PCDH15 (7%), и USH1C (13%). Наибольшую частоту показала мутация MYO7A p.Q18*. Описано 6 новых мутаций в гене MYO7A, и две - в гене PCDH15. У пациентов с СА II выявлена 21 мутация гена USH2A, 5 из которых описаны впервые. Наибольшую частоту показала мутация USH2A p.W3955*. У двух пациентов выявлены мутации в генах несиндромального пигментного ретинита RHO и RPGR, что позволило уточнить клинический диагноз. Studying the mutation spectrum and improvement of molecular verification of the Usher syndrome (USH) are of particular relevance as gene therapy emerges. Among 46 patients with signs of Usher syndrome we identified mutations in 40 (85%) patients, establishing a diagnosis of USH1 and USH2 for 26% and 57% of the probands of the initial sample, respectively. Patients with USH1 showed mutations in the MYO7A (73%), CDH23 (7%), PCDH15 (7%), and USH1C (13%) genes. MYO7A p.Q18* mutation showed the highest frequency. We have identified 6 new mutations in the MYO7A gene, and 2 in the PCDH15 gene. In USH2 patients, 21 USH2A gene mutations were identified, 5 of which are novel. The USH2A mutation p.W3955* was most frequent. Two patients showed mutations in the non-syndromic retinitis pigmentosa genes RHO and RPGR, which made it possible to clarify the clinical diagnosis.

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18

Graves, Maura J., Samaneh Matoo, Myoung Soo Choi, Zachary A. Storad, Rawnag A. El Sheikh Idris, Brooke K. Pickles, Prashun Acharya, Paula E. Shinder, Taylen O. Arvay i Scott W. Crawley. "A cryptic sequence targets the adhesion complex scaffold ANKS4B to apical microvilli to promote enterocyte brush border assembly". Journal of Biological Chemistry 295, nr 36 (6.07.2020): 12588–604. http://dx.doi.org/10.1074/jbc.ra120.013790.

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Nutrient-transporting enterocytes interact with their luminal environment using a densely packed collection of apical microvilli known as the brush border. Assembly of the brush border is controlled by the intermicrovillar adhesion complex (IMAC), a protocadherin-based complex found at the tips of brush border microvilli that mediates adhesion between neighboring protrusions. ANKS4B is known to be an essential scaffold within the IMAC, although its functional properties have not been thoroughly characterized. We report here that ANKS4B is directed to the brush border using a noncanonical apical targeting sequence that maps to a previously unannotated region of the scaffold. When expressed on its own, this sequence targeted to microvilli in the absence of any direct interaction with the other IMAC components. Sequence analysis revealed a coiled-coil motif and a putative membrane-binding basic-hydrophobic repeat sequence within this targeting region, both of which were required for the scaffold to target and mediate brush border assembly. Size-exclusion chromatography of the isolated targeting sequence coupled with in vitro brush border binding assays suggests that it functions as an oligomer. We further show that the corresponding sequence found in the closest homolog of ANKS4B, the scaffold USH1G that operates in sensory epithelia as part of the Usher complex, lacks the inherent ability to target to microvilli. This study further defines the underlying mechanism of how ANKS4B targets to the apical domain of enterocytes to drive brush border assembly and identifies a point of functional divergence between the ankyrin repeat–based scaffolds found in the IMAC and Usher complex.

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19

Martinez-Gomez, Estrella, Alvaro Gallego-Martinez, Pablo Roman-Naranjo i Jose A. Lopez-Escamez. "Clinical and molecular genetics of Meniere disease". Medizinische Genetik 32, nr 2 (1.08.2020): 141–48. http://dx.doi.org/10.1515/medgen-2020-2019.

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Abstract Meniere disease (MD) represents a heterogeneous group of relatively rare disorders of the inner ear that causes vertigo attacks, fluctuating sensorineural hearing loss (SNHL) involving low and medium frequencies, tinnitus, and aural fullness. MD has been attributed to an accumulation of endolymph in the cochlear duct. The diagnosis of MD is based on the phenomenological association of clinical symptoms including SNHL during the vertigo attacks. At least two mechanisms are involved in MD: (a) a pro-inflammatory immune response mediated by interleukin-1 beta (IL-1β), tumor necrosis factor alpha (TNFα), and IL-6, and (b) nuclear factor-kappa B (NF-κB)-mediated inflammation in the carriers of the single nucleotide variant rs4947296. The majority of MD cases are considered sporadic, although familial aggregation has been recognized in European and East Asian populations in multiplex families, supporting a genetic contribution to the disease. In sporadic MD cases, the main genetic findings involve multiplex rare variants in several SNHL genes, such as GJB2, USH1G, SLC26A4, ESRRB, and CLDN14, and axonal guidance signaling genes, such as NTN4 and NOX3. Familial aggregation has been reported in 6–8 % of MD cases, and most families show an autosomal dominant inheritance. Few rare missense heterozygous variants have been described in simplex families in six genes (COCH, FAM136A, DTNA, PRKCB, SEMA3D, and DPT). Of note, 33 % of familial MD individuals show singleton and multiplex rare missense variants in the OTOG gene, suggesting a multiallelic inheritance. Moreover, potentially pathogenic rare variants in the familial genes FAM136A, DTNA, and DPT have been reported in Korean singletons with sporadic MD. Rare variants may have a significant contribution to sporadic and familial MD. The interaction of common cis-regulatory variants located in non-coding regions and rare variants in coding regions in one or more genes will determine the variation on the phenotype in MD. Further studies on genotype–phenotype correlations are required to improve the yield of genetic diagnosis, and different types of variants seem to contribute to the genetic structure of MD.

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Ouyang, XM, JF Hejtmancik, SG Jacobson, XJ Xia, A. Li, LL Du, V. Newton i in. "USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele". Clinical Genetics 63, nr 2 (10.03.2003): 150–53. http://dx.doi.org/10.1046/j.0009-9163.2002.00004.x.

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Wolfrum, Uwe, i Kerstin Nagel-Wolfrum. "Das Usher-Syndrom, eine Ziliopathie des Menschen". Klinische Monatsblätter für Augenheilkunde 235, nr 03 (marzec 2018): 273–80. http://dx.doi.org/10.1055/a-0573-9431.

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ZusammenfassungDas humane Usher-Syndrom (USH) ist eine seltene, komplexe genetische Erkrankung, die sich in kombinierter Taubblindheit manifestiert. Aufgrund der Ausprägung des Krankheitsbilds werden 3 klinische Typen (USH1 – 3) unterschieden. Für eine korrekte Diagnose sind zusätzlich zu den auditorischen Tests im Zuge des Neugeborenenscreens auch frühe ophthalmologische Untersuchungen und eine molekulargenetische Abklärung notwendig. Die bislang 10 bekannten USH-Gene codieren für heterogene Proteine, die in Proteinnetzwerken miteinander in Funktionseinheiten kooperieren. Im Auge und im Ohr werden USH-Proteine vor allem in den mechanosensitiven Haarsinneszellen und den Stäbchen- und Zapfenphotorezeptorzellen exprimiert. In den Haarzellen sind die USH-Proteinnetzwerke sowohl für die korrekte Differenzierung der reizaufnehmenden Haarbündel als auch für den mechanisch-elektrischen Transduktionskomplex essenziell. In den Photorezeptorzellen sind USH-Proteine im Bereich des Ciliums lokalisiert, wo sie an intrazellulären Transportprozessen beteiligt sein dürften. Darüber hinaus ist ein USH-Proteinnetzwerk in den sog. „calyceal processes“, die das Außensegment der Photorezeptorzellen stabilisieren, zu finden. Das Fehlen der „calyceal processes“ und eines prominenten visuellen Phänotyps in der Maus disqualifiziert Mausmodelle als Modelle für die ophthalmologische Komponente von USH. Während Hörstörungen mit Hörgeräten und Cochleaimplantaten kompensiert werden können, gibt es für USH im Auge bislang keine praktikable Therapie. Derzeit werden genbasierte Therapiekonzepte, wie bspw. Genaddition, Applikationen von Antisense-Oligonukleotiden und TRIDs („translational readthrough inducing drugs“) zum Überlesen von Nonsense-Mutationen präklinisch evaluiert. Für USH1B/MYO7A läuft bereits die UshStat-Gentherapie als klinische Studie.

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Sahly, Iman, Eric Dufour, Cataldo Schietroma, Vincent Michel, Amel Bahloul, Isabelle Perfettini, Elise Pepermans i in. "Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice". Journal of Cell Biology 199, nr 2 (8.10.2012): 381–99. http://dx.doi.org/10.1083/jcb.201202012.

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The mechanisms underlying retinal dystrophy in Usher syndrome type I (USH1) remain unknown because mutant mice lacking any of the USH1 proteins—myosin VIIa, harmonin, cadherin-23, protocadherin-15, sans—do not display retinal degeneration. We found here that, in macaque photoreceptor cells, all USH1 proteins colocalized at membrane interfaces (i) between the inner and outer segments in rods and (ii) between the microvillus-like calyceal processes and the outer segment basolateral region in rods and cones. This pattern, conserved in humans and frogs, was mediated by the formation of an USH1 protein network, which was associated with the calyceal processes from the early embryonic stages of outer segment growth onwards. By contrast, mouse photoreceptors lacked calyceal processes and had no USH1 proteins at the inner–outer segment interface. We suggest that USH1 proteins form an adhesion belt around the basolateral region of the photoreceptor outer segment in humans, and that defects in this structure cause the retinal degeneration in USH1 patients.

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Pan, Lifeng, i Mingjie Zhang. "Structures of Usher Syndrome 1 Proteins and Their Complexes". Physiology 27, nr 1 (luty 2012): 25–42. http://dx.doi.org/10.1152/physiol.00037.2011.

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Usher syndrome 1 (USH1) is the most common and severe form of hereditary loss of hearing and vision. Genetic, physiological, and cell biological studies, together with recent structural investigations, have not only uncovered the physiological functions of the five USH1 proteins but also provided mechanistic explanations for the hearing and visual deficiencies in humans caused by USH1 mutations. This review focuses on the structural basis of the USH1 protein complex organization.

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Ahmed, Zubair M., Thomas J. Jaworek, Gowri N. Sarangdhar, Lili Zheng, Khitab Gul, Shaheen N. Khan, Thomas B. Friedman i in. "Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment". Journal of Medical Genetics 55, nr 7 (23.03.2018): 479–88. http://dx.doi.org/10.1136/jmedgenet-2017-105221.

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BackgroundUsher syndrome (USH) is a neurosensory disorder characterised by deafness, variable vestibular areflexia and vision loss. The aim of the study was to identify the genetic defect in a Pakistani family (PKDF1051) segregating USH.MethodsGenome-wide linkage analysis was performed by using an Illumina linkage array followed by Sanger and exome sequencing. Heterologous cells and mouse organ of Corti explant-based transfection assays were used for functional evaluations. Detailed clinical evaluations were performed to characterise the USH phenotype.ResultsThrough homozygosity mapping, we genetically linked the USH phenotype segregating in family PKDF1051 to markers on chromosome 1p36.32-p36.22. The locus was designated USH1M. Using a combination of Sanger sequencing and exome sequencing, we identified a novel homozygous 18 base pair inframe deletion in ESPN. Variants of ESPN, encoding the actin-bundling protein espin, have been previously associated with deafness and vestibular areflexia in humans with no apparent visual deficits. Our functional studies in heterologous cells and in mouse organ of Corti explant cultures revealed that the six deleted residues in affected individuals of family PKDF1051 are essential for the actin bundling function of espin demonstrated by ultracentrifugation actin binding and bundling assays. Funduscopic examination of the affected individuals of family PKDF1051 revealed irregular retinal contour, temporal flecks and disc pallor in both eyes. ERG revealed diminished rod photoreceptor function among affected individuals.ConclusionOur study uncovers an additional USH gene, assigns the USH1 phenotype to a variant of ESPN and provides a 12th molecular component to the USH proteome.

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Choi, Myoung Soo, Maura J. Graves, Samaneh Matoo, Zachary A. Storad, Rawnag A. El Sheikh Idris, Meredith L. Weck, Zachary B. Smith, Matthew J. Tyska i Scott W. Crawley. "The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex". Journal of Biological Chemistry 295, nr 28 (24.03.2020): 9281–96. http://dx.doi.org/10.1074/jbc.ra120.012820.

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Specialized transporting and sensory epithelial cells employ homologous protocadherin-based adhesion complexes to remodel their apical membrane protrusions into organized functional arrays. Within the intestine, the nutrient-transporting enterocytes utilize the intermicrovillar adhesion complex (IMAC) to assemble their apical microvilli into an ordered brush border. The IMAC bears remarkable homology to the Usher complex, whose disruption results in the sensory disorder type 1 Usher syndrome (USH1). However, the entire complement of proteins that comprise both the IMAC and Usher complex are not yet fully elucidated. Using a protein isolation strategy to recover the IMAC, we have identified the small EF-hand protein calmodulin-like protein 4 (CALML4) as an IMAC component. Consistent with this finding, we show that CALML4 exhibits marked enrichment at the distal tips of enterocyte microvilli, the site of IMAC function, and is a direct binding partner of the IMAC component myosin-7b. Moreover, distal tip enrichment of CALML4 is strictly dependent upon its association with myosin-7b, with CALML4 acting as a light chain for this myosin. We further show that genetic disruption of CALML4 within enterocytes results in brush border assembly defects that mirror the loss of other IMAC components and that CALML4 can also associate with the Usher complex component myosin-7a. Our study further defines the molecular composition and protein-protein interaction network of the IMAC and Usher complex and may also shed light on the etiology of the sensory disorder USH1H.

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Li, Jianchao, Yunyun He, Meredith L. Weck, Qing Lu, Matthew J. Tyska i Mingjie Zhang. "Structure of Myo7b/USH1C complex suggests a general PDZ domain binding mode by MyTH4-FERM myosins". Proceedings of the National Academy of Sciences 114, nr 19 (24.04.2017): E3776—E3785. http://dx.doi.org/10.1073/pnas.1702251114.

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Unconventional myosin 7a (Myo7a), myosin 7b (Myo7b), and myosin 15a (Myo15a) all contain MyTH4-FERM domains (myosin tail homology 4-band 4.1, ezrin, radixin, moesin; MF) in their cargo binding tails and are essential for the growth and function of microvilli and stereocilia. Numerous mutations have been identified in the MyTH4-FERM tandems of these myosins in patients suffering visual and hearing impairment. Although a number of MF domain binding partners have been identified, the molecular basis of interactions with the C-terminal MF domain (CMF) of these myosins remains poorly understood. Here we report the high-resolution crystal structure of Myo7b CMF in complex with the extended PDZ3 domain of USH1C (a.k.a., Harmonin), revealing a previously uncharacterized interaction mode both for MyTH4-FERM tandems and for PDZ domains. We predicted, based on the structure of the Myo7b CMF/USH1C PDZ3 complex, and verified that Myo7a CMF also binds to USH1C PDZ3 using a similar mode. The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a.

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Al-Choboq, Joëlle, Mélanie L. Ferlazzo, Laurène Sonzogni, Adeline Granzotto, Laura El-Nachef, Mira Maalouf, Elise Berthel i Nicolas Foray. "Usher Syndrome Belongs to the Genetic Diseases Associated with Radiosensitivity: Influence of the ATM Protein Kinase". International Journal of Molecular Sciences 23, nr 3 (29.01.2022): 1570. http://dx.doi.org/10.3390/ijms23031570.

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Usher syndrome (USH) is a rare autosomal recessive disease characterized by the combination of hearing loss, visual impairment due to retinitis pigmentosa, and in some cases vestibular dysfunctions. Studies published in the 1980s reported that USH is associated with cellular radiosensitivity. However, the molecular basis of this particular phenotype has not yet been documented. The aim of this study was therefore to document the radiosensitivity of USH1—a subset of USH—by examining the radiation-induced nucleo-shuttling of ATM (RIANS), as well as the functionality of the repair and signaling pathways of the DNA double-strand breaks (DSBs) in three skin fibroblasts derived from USH1 patients. The clonogenic cell survival, the micronuclei, the nuclear foci formed by the phosphorylated forms of the X variant of the H2A histone (ɣH2AX), the phosphorylated forms of the ATM protein (pATM), and the meiotic recombination 11 nuclease (MRE11) were used as cellular and molecular endpoints. The interaction between the ATM and USH1 proteins was also examined by proximity ligation assay. The results showed that USH1 fibroblasts were associated with moderate but significant radiosensitivity, high yield of micronuclei, and impaired DSB recognition but normal DSB repair, likely caused by a delayed RIANS, suggesting a possible sequestration of ATM by some USH1 proteins overexpressed in the cytoplasm. To our knowledge, this report is the first radiobiological characterization of cells from USH1 patients at both molecular and cellular scales.

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Tian, Cong, Xue Z. Liu, Fengchan Han, Heping Yu, Chantal Longo-Guess, Bin Yang, Changjun Lu, Denise Yan i Qing Y. Zheng. "Ush1c gene expression levels in the ear and eye suggest different roles for Ush1c in neurosensory organs in a new Ush1c knockout mouse". Brain Research 1328 (kwiecień 2010): 57–70. http://dx.doi.org/10.1016/j.brainres.2010.02.079.

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Gerber, Sylvie, Dominique Bonneau, Brigitte Gilbert, Arnold Munnich, Jean-Louis Dufier, Jean-Michel Rozet i Josseline Kaplan. "USH1A: Chronicle of a Slow Death". American Journal of Human Genetics 78, nr 2 (luty 2006): 357–59. http://dx.doi.org/10.1086/500275.

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Johnson, K. R. "Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene". Human Molecular Genetics 12, nr 23 (30.09.2003): 3075–86. http://dx.doi.org/10.1093/hmg/ddg332.

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Booth, K. T., K. Kahrizi, M. Babanejad, H. Daghagh, G. Bademci, S. Arzhangi, D. Zareabdollahi i in. "Variants in CIB2 cause DFNB48 and not USH1J". Clinical Genetics 93, nr 4 (12.02.2018): 812–21. http://dx.doi.org/10.1111/cge.13170.

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Liu, Xue Z., Denise Yan, Xiaomei Ouyang i Li Lin Du. "R093: Characterization of Knockout Mouse Model for USH1C". Otolaryngology–Head and Neck Surgery 137, nr 2_suppl (sierpień 2007): P182. http://dx.doi.org/10.1016/j.otohns.2007.06.428.

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Bang-Christensen, Sara R., Viatcheslav Katerov, Amalie M. Jørgensen, Tobias Gustavsson, Swati Choudhary, Thor G. Theander, Ali Salanti, Hatim T. Allawi i Mette Ø. Agerbæk. "Detection of VAR2CSA-Captured Colorectal Cancer Cells from Blood Samples by Real-Time Reverse Transcription PCR". Cancers 13, nr 23 (23.11.2021): 5881. http://dx.doi.org/10.3390/cancers13235881.

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Analysis of circulating tumor cells (CTCs) from blood samples provides a non-invasive approach for early cancer detection. However, the rarity of CTCs makes it challenging to establish assays with the required sensitivity and specificity. We combine a highly sensitive CTC capture assay exploiting the cancer cell binding recombinant malaria VAR2CSA protein (rVAR2) with the detection of colon-related mRNA transcripts (USH1C and CKMT1A). Cancer cell transcripts are detected by RT-qPCR using proprietary Target Enrichment Long-probe Quantitative Amplified Signal (TELQAS) technology. We validate each step of the workflow using colorectal cancer (CRC) cell lines spiked into blood and compare this with antibody-based cell detection. USH1C and CKMT1A are expressed in healthy colon tissue and CRC cell lines, while only low-level expression can be detected in healthy white blood cells (WBCs). The qPCR reaction shows a near-perfect amplification efficiency for all primer targets with minimal interference of WBC cDNA. Spike-in of 10 cancer cells in 3 mL blood can be detected and statistically separated from control blood using the RT-qPCR assay after rVAR2 capture (p < 0.01 for both primer targets, Mann-Whitney test). Our results provide a validated workflow for highly sensitive detection of magnetically enriched cancer cells.

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34

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 i Cor W. R. J. Cremers. "Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12)". Otology & Neurotology 25, nr 5 (wrzesień 2004): 699–706. http://dx.doi.org/10.1097/00129492-200409000-00009.

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Liu, X.-Z., SH Blanton, M. Bitner-Glindzicz, A. Pandya, B. Landa, B. MacArdle, K. Rajput i in. "Haplotype analysis of the USH1D locus and genotype-phenotype correlations". Clinical Genetics 60, nr 1 (lipiec 2001): 58–62. http://dx.doi.org/10.1034/j.1399-0004.2001.600109.x.

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Weck, Meredith L., Scott W. Crawley i Matthew J. Tyska. "A heterologous in-cell assay for investigating intermicrovillar adhesion complex interactions reveals a novel protrusion length-matching mechanism". Journal of Biological Chemistry 295, nr 48 (13.10.2020): 16191–206. http://dx.doi.org/10.1074/jbc.ra120.015929.

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Solute transporting epithelial cells build arrays of microvilli on their apical surface to increase membrane scaffolding capacity and enhance function potential. In epithelial tissues such as the kidney and gut, microvilli are length-matched and assembled into tightly packed “brush borders,” which are organized by ∼50-nm thread-like links that form between the distal tips of adjacent protrusions. Composed of protocadherins CDHR2 and CDHR5, adhesion links are stabilized at the tips by a cytoplasmic tripartite module containing the scaffolds USH1C and ANKS4B and the actin-based motor MYO7B. Because several questions about the formation and function of this “intermicrovillar adhesion complex” remain open, we devised a system that allows one to study individual binary interactions between specific complex components and MYO7B. Our approach employs a chimeric myosin consisting of the MYO10 motor domain fused to the MYO7B cargo-binding tail domain. When expressed in HeLa cells, which do not normally produce adhesion complex proteins, this chimera trafficked to the tips of filopodia and was also able to transport individual complex components to these sites. Unexpectedly, the MYO10–MYO7B chimera was able to deliver CDHR2 and CDHR5 to distal tips in the absence of USH1C or ANKS4B. Cells engineered to localize high levels of CDHR2 at filopodial tips acquired interfilopodial adhesion and exhibited a striking dynamic length-matching activity that aligned distal tips over time. These findings deepen our understanding of mechanisms that promote the distal tip accumulation of intermicrovillar adhesion complex components and also offer insight on how epithelial cells minimize microvillar length variability.

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37

Roux, Anne-Françoise, Valérie Faugère, Christel Vaché, David Baux, Thomas Besnard, Susana Léonard, Catherine Blanchet i in. "Four-Year Follow-up of Diagnostic Service in USH1 Patients". Investigative Opthalmology & Visual Science 52, nr 7 (8.06.2011): 4063. http://dx.doi.org/10.1167/iovs.10-6869.

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Kaplan, J., S. Gerber, D. Bonneau, J. M. Rozet, O. Delrieu, M. L. Briard, H. Dollfus i in. "A gene for usher syndrome type I (USH1A) maps to chromosome 14q". Genomics 14, nr 4 (grudzień 1992): 979–87. http://dx.doi.org/10.1016/s0888-7543(05)80120-x.

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39

Wayne, S. "Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10". Human Molecular Genetics 5, nr 10 (1.10.1996): 1689–92. http://dx.doi.org/10.1093/hmg/5.10.1689.

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Lentz, Jennifer J., William C. Gordon, Hamilton E. Farris, Glen H. MacDonald, Dale E. Cunningham, Carol A. Robbins, Bruce L. Tempel i in. "Deafness and retinal degeneration in a novel USH1C knock-in mouse model". Developmental Neurobiology 70, nr 4 (21.01.2010): 253–67. http://dx.doi.org/10.1002/dneu.20771.

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Espinos, C., C. Najera, J. M. Millan, C. Ayuso, M. Baiget, H. Perez-Garrigues, O. Rodrigo, C. Vilela i M. Beneyto. "Linkage analysis in Usher syndrome type I (USH1) families from Spain." Journal of Medical Genetics 35, nr 5 (1.05.1998): 391–98. http://dx.doi.org/10.1136/jmg.35.5.391.

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Yan, Denise, Kazusaku Kamiya, Xiao Mei Ouyang i Xue Zhong Liu. "Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice". International Journal of Experimental Pathology 92, nr 1 (13.12.2010): 66–71. http://dx.doi.org/10.1111/j.1365-2613.2010.00751.x.

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Saihan, Zubin, Polona Le Quesne Stabej, Anthony G. Robson, Nell Rangesh, Graham E. Holder, Anthony T. Moore, FRCOphth, Karen P. Steel, Linda M. Luxon, Maria Bitner-Glindzicz i Andrew R. Webster. "MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS". Retina 31, nr 8 (wrzesień 2011): 1708–16. http://dx.doi.org/10.1097/iae.0b013e31820d3fd1.

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Ouyang, Xiao, Xia Xia, Elisabeth Verpy, Li Du, Arti Pandya, Christine Petit, Thomas Balkany, Walter E. Nance i Xue Liu. "Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness". Human Genetics 111, nr 1 (lipiec 2002): 26–30. http://dx.doi.org/10.1007/s00439-002-0736-0.

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Hosono, Naoko, Hasan Rehman, Bartlomiej Przychodzen, Ines Gomez-Segui, Kathryn M. Guinta, Kenichi Yoshida, Satoru Miyano i in. "Various Germline Congenital Disorder Genes Are Somatically Mutated in Myeloid Malignancies". Blood 120, nr 21 (16.11.2012): 1405. http://dx.doi.org/10.1182/blood.v120.21.1405.1405.

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Abstract Abstract 1405 Genes involved in congenital genetic cancer susceptibility syndromes are also targets of somatic mutations in various tumors. Examples include WT1, NF1, CBL, TP53 and MLL2 affected both in germ line as well as somatic mutations present in malignant disorders. To apply this approach to investigation of pathogenic mutations in myeloid malignancies, we selected 183 congenital disorders in which germline mutations of disease specific genes are reported to be pathogenic. Their main clinical presentations are skeletal abnormalities (N=54 disorders), skin abnormality (N=24), mental retardation (N=17) and hematological disorders (N=12). In total, we searched for mutations in 204 genes associated with these congenital disorders. We analyzed whole exome of various myeloid malignancies, including 60 cases with myelodysplastic syndromes (MDS), 29 MDS/MPN, 5 with MPN and 122 with acute myeloid leukemia (AML) and found somatic mutations in 62 genes, which also mutated in germ line in various congenital syndromes. Of those, the most frequently mutated genes were TP53 (25 cases) and WT1 (16 cases), associated with germline mutation of Li-Fraumeni syndrome and Wilms tumor, respectively. Some somatic mutations, for example, NF1 (R1276Q) and PTPN11 (D61N), were exactly the same as observed in corresponding congenital disorders (Neurofibromatosis or Noonan syndrome). One of the novel findings is that somatic SET binding protein 1 (SETBP1) mutations (D868N, G870S and I871T) were commonly observed in sAML and CMML, and were identical to germline mutations in Schinzel-Giedion syndrome (see designated abstract). We found recurrent somatic SETBP1 mutations in 15% of each CMML and sAML. Moreover, multiple genes pathogenic in Usher syndrome (congenital hearing and vision loss, complicated by vasoproliferative retinal tumor), were somatically mutated in various myeloid neoplasms. Out of 9 genes which are causative for this syndrome, 15 mutations of 6 genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, and GPR98) were observed in 13 cases, including 2 frameshift and 13 missense mutations. These genes coordinate with each other to form a functional network. CDH23 and PCDH15 are cadherins and act as cell adhesion molecules. MYO7A are actin-based motor molecules with a variety of functions. USH1C serves as an anchor and codes for a scaffolding protein to form a complex with all the other proteins. Through the PDZ binding site, USH1C forms a complex with CDH23, which was the most frequently mutated gene in this family (1 frame shift and 3 misssense mutations). CDH23 mutations were observed in 2 cases with primary AML, sAML and MDS. Specifically, a somatic missense mutation G2771S of CDH23 in a secondary AML case was identical to germline of Usher syndrome. The second most frequently mutated gene, GPR98, is located in 5q14.3 locus; a small hemizygous clone found in del5q of an MDS case. In a serial sample analysis, this mutation increased to become the larger main clone during AML evolution. Moreover, in this case, an additional CDH23 mutation was acquired in the course of leukemic expansion. In such cases with Usher syndrome gene mutations, U2AF1, ZRSR2, EZH2, IDH2 and ETV6 mutations were also observed, suggesting pathogenic cooperation with these well-known tumor suppressor genes and oncogenes. Disclosures: Maciejewski: NIH: Research Funding; Aplastic Anemia&MDS International Foundation: Research Funding. Makishima:Scott Hamilton CARES Initiative: Research Funding.

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Chaib, H. "A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21". Human Molecular Genetics 6, nr 1 (1.01.1997): 27–31. http://dx.doi.org/10.1093/hmg/6.1.27.

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Jaworek, Thomas J., Rashid Bhatti, Noreen Latief, Shaheen N. Khan, Saima Riazuddin i Zubair M. Ahmed. "USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21–q21.1". Journal of Human Genetics 57, nr 10 (21.06.2012): 633–37. http://dx.doi.org/10.1038/jhg.2012.79.

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Blaydon, DC, RF Mueller, TP Hutchin, BP Leroy, SS Bhattacharya, AC Bird, S. Malcolm i M. Bitner-Glindzicz. "The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK". Clinical Genetics 63, nr 4 (kwiecień 2003): 303–7. http://dx.doi.org/10.1034/j.1399-0004.2003.00058.x.

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Ahmed, ZM, S. Riazuddin, SN Khan, PL Friedman, S. Riazuddin i TB Friedman. "USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23". Clinical Genetics 75, nr 1 (styczeń 2009): 86–91. http://dx.doi.org/10.1111/j.1399-0004.2008.01038.x.

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Lentz, Jennifer, Sevtap Savas, San-San Ng, Grace Athas, Prescott Deininger i Bronya Keats. "The USH1C 216G?A splice-site mutation results in a 35-base-pair deletion". Human Genetics 116, nr 3 (1.12.2004): 225–27. http://dx.doi.org/10.1007/s00439-004-1217-4.

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