![]() ![]() Since the identification of the first USH-causative gene ( MYO7A) in 1995, by far, mutations in twelve genes have been implicated in the etiology of USH. They are mainly distinguished by the severity and progression of the deafness and the presence of vestibular defects. Three major clinical subtypes have been described called USH type 1, type 2, and type 3. USH is clinically and genetically heterogeneous. USH is estimated to be responsible for the majority of deaf-blindness in human (accounting for over 50%), , with its prevalence ranging from 3.2 to 6.2 per 100,000 people in different populations. Some patients with USH may also manifest vestibular dysfunction. Usher syndrome (USH) is a group of autosomal recessively inherited disorders characterized by bilateral sensorineural hearing loss (SNHL) and a gradual retinal degeneration typified as retinitis pigmentosa (RP). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.Ĭompeting interests: The authors have declared that no competing interests exist. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.įunding: This work was supported by National Key Basic Research Program of China (973 Program, 2013CB967500) National Natural Science Foundation of China (81222009, 81170856, 81160124, 81260154, and 81170867) Thousand Youth Talents Program of China (to CZ) Jiangsu Outstanding Young Investigator Program (BK2012046) Jiangsu Province’s Key Provincial Talents Program (RC201149) the Fundamental Research Funds of the State Key Laboratory of Ophthalmology (to CZ) Jiangsu Province’s Scientific Research Innovation Program for Postgraduates (CXZZ13_05 to XC) Applied Research Program of the Science and Technology Commission Foundation of Tianjin (013111411 to KZ) and A Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions (PAPD). Received: JanuAccepted: ApPublished: May 15, 2014Ĭopyright: © 2014 Rong et al. PLoS ONE 9(5):Įditor: Ludmila Prokunina-Olsson, National Cancer Institute, National Institutes of Health, United States of America (2014) Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2. We also conclude that targeted NGS is an effective approach for genetic diagnosis for USH, which can further provide better understanding of genotype-phenotype relationship of the disease.Ĭitation: Rong W, Chen X, Zhao K, Liu Y, Liu X, Ha S, et al. Because MYO7A, to our knowledge, has rarely been correlated with USH type 2, our findings therefore reveal distinguished clinical phenotypes associated with MYO7A. , were identified with clinical significance. In another family affected with USH type 2, novel biallelic mutations in MYO7A, c. Crystal structural analysis denoted that p.Thr165Met would very likely change the tertiary structure of the protein encoded by MYO7A. In two families with USH type 1, novel homozygous frameshift variant p.Pro194Hisfs*13 and recurrent missense variant p.Thr165Met were demonstrated as the causative mutations respectively. Using targeted next-generation sequencing (NGS) approach, three new alleles and one known mutation in MYO7A gene were identified in the three families. Here, we recruited three Chinese families affected with autosomal recessive USH for detailed clinical evaluations and for mutation screening in the genes associated with inherited retinal diseases. Usher syndrome (USH) is a group of disorders manifested as retinitis pigmentosa and bilateral sensorineural hearing loss, with or without vestibular dysfunction.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |