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Articles de revues sur le sujet « Usher syndrome type 1B »

Auteur : Grafiati
Publié le 9 mars 2023
Mis à jour le 10 mars 2023

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1

Sun, John C., Adriaan M. van Alphen, Mariette Wagenaar, Patrick Huygen, Casper C. Hoogenraad, Tama Hasson, Sebastiaan K. E. Koekkoek, Barbara A. Bohne et Chris I. De Zeeuw. « Origin of Vestibular Dysfunction in Usher Syndrome Type 1B ». Neurobiology of Disease 8, no 1 (février 2001) : 69–77. http://dx.doi.org/10.1006/nbdi.2000.0358.

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HASHIMOTO, T., R. GROISBERG, XM ZHANG, D. GIBBS, C. LILLO, SM AZARIAN, DS WILLIAMS et XJ YANG. « Development of lentiviral vectors for gene therapy for Usher syndrome type 1B ». Acta Ophthalmologica Scandinavica 85 (2 octobre 2007) : 0. http://dx.doi.org/10.1111/j.1600-0420.2007.01062_3343.x.

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Hashimoto, T., D. Gibbs, C. Lillo, S. M. Azarian, E. Legacki, X.-M. Zhang, X.-J. Yang et D. S. Williams. « Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B ». Gene Therapy 14, no 7 (1 février 2007) : 584–94. http://dx.doi.org/10.1038/sj.gt.3302897.

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Mouglabey, Yolla Bou, Sawsan Nimri, Fouad Sayegh, Elie El Zir et Rima Slim. « Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers ». Clinical Genetics 54, no 2 (28 juin 2008) : 155–58. http://dx.doi.org/10.1111/j.1399-0004.1998.tb03720.x.

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Hasson, T., M. B. Heintzelman, J. Santos-Sacchi, D. P. Corey et M. S. Mooseker. « Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. » Proceedings of the National Academy of Sciences 92, no 21 (10 octobre 1995) : 9815–19. http://dx.doi.org/10.1073/pnas.92.21.9815.

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Williams, David S., et Vanda S. Lopes. « The many different cellular functions of MYO7A in the retina ». Biochemical Society Transactions 39, no 5 (21 septembre 2011) : 1207–10. http://dx.doi.org/10.1042/bst0391207.

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Mutations in MYO7A (myosin VIIa) cause Usher syndrome type 1B, a disorder involving profound congenital deafness and progressive blindness. In the retina, most MYO7A is localized in the apical region of the RPE (retinal pigmented epithelial) cells, and a small amount is associated with the ciliary and periciliary membranes of the photoreceptor cells. Its roles appear to be quite varied. Studies with MYO7A-null mice indicate that MYO7A participates in the apical localization of RPE melanosomes and in the removal of phagosomes from the apical RPE for their delivery to lysosomes in the basal RPE. In the first role, MYO7A competes with microtubule motors, but in the second one, it may function co-operatively. An additional role of MYO7A in the RPE is indicated by the requirement for it in the light-dependent translocation of the ER (endoplasmic reticulum)-associated visual cycle enzyme RPE65 and normal functioning of the visual retinoid cycle. In photoreceptor cells lacking MYO7A, opsin accumulates abnormally in the transition zone of the cilium, suggesting that MYO7A functions as a selective barrier for membrane proteins at the distal end of the transition zone. It is likely that the progressive retinal degeneration that occurs in Usher syndrome 1B patients results from a combination of cellular defects in the RPE and photoreceptor cells.
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Smits, Bart M. G., Theo A. Peters, Joram D. Mul, Huib J. Croes, Jack A. M. Fransen, Andy J. Beynon, Victor Guryev, Ronald H. A. Plasterk et Edwin Cuppen. « Identification of a Rat Model for Usher Syndrome Type 1B byN-Ethyl-N-nitrosourea Mutagenesis-Driven Forward Genetics ». Genetics 170, no 4 (18 juin 2005) : 1887–96. http://dx.doi.org/10.1534/genetics.105.044222.

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Zallocchi, Marisa, Katie Binley, Yatish Lad, Scott Ellis, Peter Widdowson, Sharifah Iqball, Vicky Scripps et al. « EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B : Development of UshStat ». PLoS ONE 9, no 4 (4 avril 2014) : e94272. http://dx.doi.org/10.1371/journal.pone.0094272.

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Abdelkader, Ehab, Lama Enani, Patrik Schatz et Leen Safieh. « Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene ». Saudi Journal of Ophthalmology 32, no 2 (avril 2018) : 119–25. http://dx.doi.org/10.1016/j.sjopt.2017.10.004.

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Self, T., M. Mahony, J. Fleming, J. Walsh, S. D. Brown et K. P. Steel. « Shaker-1 mutations reveal roles for myosin VIIA in both development and function of cochlear hair cells ». Development 125, no 4 (15 février 1998) : 557–66. http://dx.doi.org/10.1242/dev.125.4.557.

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The mouse shaker-1 locus, Myo7a, encodes myosin VIIA and mutations in the orthologous gene in humans cause Usher syndrome type 1B or non-syndromic deafness. Myo7a is expressed very early in sensory hair cell development in the inner ear. We describe the effects of three mutations on cochlear hair cell development and function. In the Myo7a816SB and Myo7a6J mutants, stereocilia grow and form rows of graded heights as normal, but the bundles become progressively more disorganised. Most of these mutants show no gross electrophysiological responses, but some did show evidence of hair cell depolarisation despite the disorganisation of their bundles. In contrast, the original shaker-1 mutants, Myo7ash1, had normal early development of stereocilia bundles, but still showed abnormal cochlear responses. These findings suggest that myosin VIIA is required for normal stereocilia bundle organisation and has a role in the function of cochlear hair cells.
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Sergeev, Yuri V., et Annapurna Kuppa. « Homology modeling and global computational mutagenesis of human myosin VIIa ». Journal of Analytical & ; Pharmaceutical Research 10, no 1 (4 mars 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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Pennings, Ronald J. E., Patrick L. M. Huygen, Dana J. Orten, Mariette Wagenaar, Annelies Van Aarem, Hannie Kremer, William J. Kimberling, Cor W. R. J. Cremers et August F. Deutman. « Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a ». Acta Ophthalmologica Scandinavica 82, no 2 (23 mars 2004) : 131–39. http://dx.doi.org/10.1111/j.1600-0420.2004.00234.x.

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Castiglione, Alessandro, et Claes Möller. « Usher Syndrome ». Audiology Research 12, no 1 (11 janvier 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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Jacobson, Samuel G., Artur V. Cideciyan, Dan Gibbs, Alexander Sumaroka, Alejandro J. Roman, Tomas S. Aleman, Sharon B. Schwartz et al. « Retinal Disease Course in Usher Syndrome 1B Due toMYO7AMutations ». Investigative Opthalmology & ; Visual Science 52, no 11 (7 octobre 2011) : 7924. http://dx.doi.org/10.1167/iovs.11-8313.

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Pennings, Ronald J. E., August F. Deutman, Randall R. Fields, William J. Kimberling, Patrick L. M. Huygen et W. R. J. Cremers. « Usher Syndrome Type III Can Mimic other Types of Usher Syndrome ». Annals of Otology, Rhinology & ; Laryngology 112, no 6 (juin 2003) : 525–30. http://dx.doi.org/10.1177/000348940311200608.

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Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149–152delCAGG + insTGTCCAAT. One individual (IV: 1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.
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Reisser, Christoph F. V., William J. Kimberling et Christian R. Otterstedde. « Hearing Loss in Usher Syndrome Type II is Nonprogressive ». Annals of Otology, Rhinology & ; Laryngology 111, no 12 (décembre 2002) : 1108–11. http://dx.doi.org/10.1177/000348940211101208.

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Usher syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss and progressive visual loss secondary to retinitis pigmentosa. In the literature, a possible progression of the moderate to severe hearing loss in Usher syndrome type II (Usher II) is controversial. We studied the development of the hearing loss of 125 patients with a clinical diagnosis of Usher syndrome type II intraindividually and interindividually by repeatedly performing complete audiological and neuro-otologic examinations. Our data show a very characteristic slope of the hearing curve in all Usher II patients and no clinically relevant progression of the hearing loss over up to 17 years. The subjective impression of a deterioration of the communicative abilities of Usher II patients must therefore be attributed to the progressive visual loss. The patients should be reassured that changes in their hearing abilities are unlikely and should be provided with optimally fitted modern hearing aids.
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Keats, Bronya J. B., Alexander A. Todorov, Larry D. Atwood, Mary Z. Pelias, J. Fielding Hejtmancik, William J. Kimberling, Mark Leppert, Richard A. Lewis et Richard J. H. Smith. « Linkage studies of usher syndrome type 1 : Exclusion results from the usher syndrome consortium ». Genomics 14, no 3 (novembre 1992) : 707–14. http://dx.doi.org/10.1016/s0888-7543(05)80172-7.

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Ouyang, Xiao Mei, Denise Yan, Li Lin Du, J. Fielding Hejtmancik, Samuel G. Jacobson, Walter E. Nance, An Ren Li et al. « Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population ». Human Genetics 116, no 4 (20 janvier 2005) : 292–99. http://dx.doi.org/10.1007/s00439-004-1227-2.

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Aarem, Annelies Van, Mariette Wagenaar, Alfred J. L. G. Pinckers, Patrick L. M. Huygen, Elisabeth M. Bleeker-wagemakers, Bill J. Kimberling et W. R. J. Cremers. « Ophthalmologic findings in Usher syndrome type 2A ». Ophthalmic Genetics 16, no 4 (janvier 1995) : 151–58. http://dx.doi.org/10.3109/13816819509057856.

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Ouyang, XM, D. Yam, JF Hejtmancik, SG Jacobson, AR Li, LL Du, S. Angeli, M. Kaiser, T. Balkany et XZ Liu. « Mutational spectrum in Usher syndrome type II ». Clinical Genetics 65, no 4 (16 février 2004) : 288–93. http://dx.doi.org/10.1046/j.1399-0004.2004.00216.x.

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Pieke Dahl, S., W. J. Kimberling, M. B. Gorin, M. D. Weston, J. M. Furman, A. Pikus et C. Moller. « Genetic heterogeneity of Usher syndrome type II. » Journal of Medical Genetics 30, no 10 (1 octobre 1993) : 843–48. http://dx.doi.org/10.1136/jmg.30.10.843.

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Yang, Jun. « Current understanding of usher syndrome type II ». Frontiers in Bioscience 17, no 1 (2012) : 1165. http://dx.doi.org/10.2741/3979.

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FRIEDMAN, THOMAS B., JULIE M. SCHULTZ et ZUBAIR M. AHMED. « Usher Syndrome Type 1 : Genotype–Phenotype Relationships ». Retina 25, Supplement (décembre 2005) : S40—S42. http://dx.doi.org/10.1097/00006982-200512001-00016.

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Wagenaar, Mariette, Annelies van Aarem, Patrick Huygen, Sandra Pieke-Dahl, William Kimberling et Cor Cremers. « Hearing Impairment Related to Age in Usher Syndrome Types 1B and 2A ». Archives of Otolaryngology–Head & ; Neck Surgery 125, no 4 (1 avril 1999) : 441. http://dx.doi.org/10.1001/archotol.125.4.441.

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Toms, Maria, Waheeda Pagarkar et Mariya Moosajee. « Usher syndrome : clinical features, molecular genetics and advancing therapeutics ». Therapeutic Advances in Ophthalmology 12 (janvier 2020) : 251584142095219. http://dx.doi.org/10.1177/2515841420952194.

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Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf–blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with MYO7A accounting for >50% of type 1 and USH2A contributing to approximately 80% of type 2 Usher syndrome. Variants in these genes can also cause non-syndromic RP and deafness. Genotype–phenotype correlations have been described for several of the Usher genes. Hearing loss is managed with hearing aids and cochlear implants, which has made a significant improvement in quality of life for patients. While there is currently no available approved treatment for the RP, various therapeutic strategies are in development or in clinical trials for Usher syndrome, including gene replacement, gene editing, antisense oligonucleotides and small molecule drugs.
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Astuto, Lisa M., Michael D. Weston, Carol A. Carney, Denise M. Hoover, Cor W. R. J. Cremers, Mariette Wagenaar, Claes Moller et al. « Genetic Heterogeneity of Usher Syndrome : Analysis of 151 Families with Usher Type I ». American Journal of Human Genetics 67, no 6 (décembre 2000) : 1569–74. http://dx.doi.org/10.1086/316889.

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Zaw, Khine, Livia S. Carvalho, May T. Aung-Htut, Sue Fletcher, Steve D. Wilton, Fred K. Chen et Samuel McLenachan. « Pathogenesis and Treatment of Usher Syndrome Type IIA ». Asia-Pacific Journal of Ophthalmology 11, no 4 (juillet 2022) : 369–79. http://dx.doi.org/10.1097/apo.0000000000000546.

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Rani, Alka, Nikhil Pal, Raj Vardhan Azad, Yog Raj Sharma, Parijat Chandra et Deependra Vikram Singh. « Tractional retinal detachment in Usher syndrome type II ». Clinical and Experimental Ophthalmology 33, no 4 (août 2005) : 436–37. http://dx.doi.org/10.1111/j.1442-9071.2005.01014.x.

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Plantinga, Rutger F., Ronald J. E. Pennings, Patrick L. M. Huygen, Eeva-Marja Sankila, Kaija Tuppurainen, Leenamaija Kleemola, Cor W. R. J. Cremers et August F. Deutman. « Visual impairment in Finnish Usher syndrome type III ». Acta Ophthalmologica Scandinavica 84, no 1 (2 décembre 2005) : 36–41. http://dx.doi.org/10.1111/j.1600-0420.2005.00507.x.

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Bujakowska, K. M., M. Consugar, E. Place, S. Harper, J. Lena, D. G. Taub, J. White et al. « Targeted Exon Sequencing in Usher Syndrome Type I ». Investigative Ophthalmology & ; Visual Science 55, no 12 (2 décembre 2014) : 8488–96. http://dx.doi.org/10.1167/iovs.14-15169.

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van Aarem, A., M. Wagenaar, E. Tonnaer, S. Pieke Dahl, J. Bisseling, H. Janssen, B. Bastiaans, W. Kimberling et C. Cremers. « Semen Analysis in the Usher Syndrome Type 2A ». ORL 61, no 3 (1999) : 126–30. http://dx.doi.org/10.1159/000027656.

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CAHILL, MARK T., PETER J. BARRY et PAUL F. KENNA. « GIANT RETINAL TEAR IN USHER SYNDROME TYPE II ». Retina 18, no 2 (1998) : 177. http://dx.doi.org/10.1097/00006982-199818020-00016.

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Kıratlı, Hayyam, et Cem Öztürkmen. « Coats-like lesions in Usher syndrome type II ». Graefe's Archive for Clinical and Experimental Ophthalmology 242, no 3 (3 décembre 2003) : 265–67. http://dx.doi.org/10.1007/s00417-003-0818-2.

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Pakarinen, Leenamaija, Kaija Tuppurainen, Pekka Laippala, Maija M�ntyj�rvi et Heikki Puhakka. « The ophthalmological course of Usher syndrome type III ». International Ophthalmology 19, no 5 (1995) : 307–11. http://dx.doi.org/10.1007/bf00130927.

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Baghdadi, Moetez, Simona Caldani, Audrey Maudoux, Isabelle Audo, Maria Pia Bucci et Sylvette R. Wiener-Vacher. « Subjective visual vertical in patients with Usher syndrome ». Journal of Vestibular Research 30, no 4 (17 octobre 2020) : 275–82. http://dx.doi.org/10.3233/ves-200711.

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Highlights • The estimation of verticality (assessed with Subjective visual vertical (SVV)) is more variable in patients with Usher (type I and II) compared to healthy participants. • Visual and vestibular information are essential for the visual vertical (VV) perception. • A reweighting of sensory information from the central nervous system seems to be able to compensate for the absence of vestibular function in patients with Usher type I.
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Sahu, Sabin, et Sanjay Kumar Singh. « Usher syndrome Type I in an adult Nepalese male : a rare case report ». Nepalese Journal of Ophthalmology 9, no 2 (21 février 2018) : 203–5. http://dx.doi.org/10.3126/nepjoph.v9i2.19271.

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Usher syndrome, also known as retinitis pigmentosa-dysacusis syndrome, is an extremely rare genetic disorder, characterized by retinitis pigmentosa (RP) and congenital sensorineural hearing loss. It has been estimated to account for 3-6% of the congenitally deaf population, upto 8-33% of individuals with RP and half of all cases with combined deafness and blindness (Vernon M,1969; Boughman JA et al,1983). The prevalence of Usher syndrome have been reported to range from 3.5 to 6.2 per 100,000 in different populations (Vernon M,1969; Boughman JA et al,1983; Yan D et al, 2010).We report a case of Usher syndrome type I in an adult Nepalese male with typical congenital profound hearing loss, and night blindness secondary to retinitis pigmentosa.
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Sumaroka, Alexander, Rodrigo Matsui, Artur V. Cideciyan, David B. McGuigan, Rebecca Sheplock, Sharon B. Schwartz et Samuel G. Jacobson. « Outer Retinal Changes Including the Ellipsoid Zone Band in Usher Syndrome 1B due toMYO7AMutations ». Investigative Opthalmology & ; Visual Science 57, no 9 (13 juillet 2016) : OCT253. http://dx.doi.org/10.1167/iovs.15-18860.

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Kim, Joon Hyung, So Ra Bang, Jin Gu Jeong et Nam Chun Cho. « Type III Usher Syndrome in the Republic of Korea ». Journal of the Korean Ophthalmological Society 61, no 4 (15 avril 2020) : 444–48. http://dx.doi.org/10.3341/jkos.2020.61.4.444.

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Iwasaki, Satoshi, Hidekane Yoshimura, Norito Takeichi, Hiroaki Satou, Kotaro Ishikawa, Kimitaka Kaga, Kozou Kumakawa et al. « Problem and Assignment for Distinguishing the Usher Syndrome Type ». Nippon Jibiinkoka Gakkai Kaiho 115, no 10 (2012) : 894–901. http://dx.doi.org/10.3950/jibiinkoka.115.894.

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Fu, Qing, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li et al. « CEP78is mutated in a distinct type of Usher syndrome ». Journal of Medical Genetics 54, no 3 (14 septembre 2016) : 190–95. http://dx.doi.org/10.1136/jmedgenet-2016-104166.

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Cockey, Carolyn Davis. « Early Diagnosis of Usher Syndrome Type 1 Now Possible ». AWHONN Lifelines 7, no 4 (août 2003) : 314. http://dx.doi.org/10.1111/j.1552-6356.2003.tb00117.x.

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FARKAS, A., B. LESCH, B. VARSANYI et R. VA'MOS. « Phenotype characteristics of patients with Usher syndrome type 2 ». Acta Ophthalmologica Scandinavica 85 (2 octobre 2007) : 0. http://dx.doi.org/10.1111/j.1600-0420.2007.01062_3240.x.

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Ebermann, I., M. H. J. Wiesen, E. Zrenner, I. Lopez, R. Pigeon, S. Kohl, H. Lowenheim, R. K. Koenekoop et H. J. Bolz. « GPR98 mutations cause Usher syndrome type 2 in males ». Journal of Medical Genetics 46, no 4 (1 avril 2009) : 277–80. http://dx.doi.org/10.1136/jmg.2008.059626.

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Miner, I. D. « People with Usher Syndrome, Type II : Issues and Adaptations ». Journal of Visual Impairment & ; Blindness 91, no 6 (novembre 1997) : 579–89. http://dx.doi.org/10.1177/0145482x9709100610.

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People with Usher syndrome, Type II, were born hard-of-hearing and undergo the progressive loss of vision from adolescence onward—changes that require multiple adaptations. This article describes what they experience in childhood, adolescence, and adulthood; discusses the lack of appropriate services and the failure of professionals to provide sufficient information on the condition; and stresses the importance of access to information and the acquisition of new skills as early as possible before the visual impairment becomes severe.
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Liu, Xue Z., Simon I. Angeli, Kaukab Rajput, Denise Yan, Annelle V. Hodges, Adrien Eshraghi, Fred F. Telischi et Thomas J. Balkany. « Cochlear implantation in individuals with Usher type 1 syndrome ». International Journal of Pediatric Otorhinolaryngology 72, no 6 (juin 2008) : 841–47. http://dx.doi.org/10.1016/j.ijporl.2008.02.013.

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Flores-Guevara, Roberto, Francis Renault, Natalie Loundon, Sandrine Marlin, Béatrice Pelosse, Martha Momtchilova, Monique Auzoux-Chevé, Anne Isabelle Vermersch et Pascal Richard. « Usher syndrome type 1 : Early detection of electroretinographic changes ». European Journal of Paediatric Neurology 13, no 6 (novembre 2009) : 505–7. http://dx.doi.org/10.1016/j.ejpn.2008.10.002.

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Kimberling, William J., Michael D. Weston, Claes Möller, Sandra L. H. Davenport, Yin Y. Shugart, Ira A. Priluck, Alessandro Martini, Massimo Milani et Richard J. Smith. « Localization of Usher syndrome type II to chromosome 1q ». Genomics 7, no 2 (juin 1990) : 245–49. http://dx.doi.org/10.1016/0888-7543(90)90546-7.

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Tosi, Gian Marco. « Usher Syndrome Type 1 Associated With Primary Ciliary Aplasia ». Archives of Ophthalmology 121, no 3 (1 mars 2003) : 407. http://dx.doi.org/10.1001/archopht.121.3.407.

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Millán, José M., Elena Aller, Teresa Jaijo, Fiona Blanco-Kelly, Ascensión Gimenez-Pardo et 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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Mansard, Luke, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère et al. « The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A ». International Journal of Molecular Sciences 22, no 24 (10 décembre 2021) : 13294. http://dx.doi.org/10.3390/ijms222413294.

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Usher syndrome is an autosomal recessive disorder characterized by congenital hearing loss combined with retinitis pigmentosa, and in some cases, vestibular areflexia. Three clinical subtypes are distinguished, and MYO7A and USH2A represent the two major causal genes involved in Usher type I, the most severe form, and type II, the most frequent form, respectively. Massively parallel sequencing was performed on a cohort of patients in the context of a molecular diagnosis to confirm clinical suspicion of Usher syndrome. We report here 231 pathogenic MYO7A and USH2A genotypes identified in 73 Usher type I and 158 Usher type II patients. Furthermore, we present the ACMG classification of the variants, which comprise all types. Among them, 68 have not been previously reported in the literature, including 12 missense and 16 splice variants. We also report a new deep intronic variant in USH2A. Despite the important number of molecular studies published on these two genes, we show that during the course of routine genetic diagnosis, undescribed variants continue to be identified at a high rate. This is particularly pertinent in the current era, where therapeutic strategies based on DNA or RNA technologies are being developed.
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