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Iranian Journal of Basic Medical Sciences، جلد ۱۹، شماره ۷، صفحات ۷۷۲-۷۷۸
عنوان فارسی
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عنوان انگلیسی Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family
چکیده انگلیسی مقاله Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most frequent genes proposed include GJB2, SLC26A4, MYO15A, OTOF, and CDH23 worldwide. Materials and Methods: the aim of the present study was to determine the role of MYO15A gene mutations in Iranian families. Thirty Iranian families with over three deaf children and negative for GJB2 using genetic linkage analysis (GLA), followed by mutation screening by DNA sequencing were enrolled. Results: One family (3.33%) showed linkage to DFNB3 and a novel mutation was identified in the MYO15A gene (c.6442T>A) as the disease-causing mutation. Mutation co-segregated with hearing loss in the family but was not present in the 100 ethnicity-matched controls. Conclusion: Our results confirmed that the hearing loss of the linked Iranian family was caused by a novel missense mutation in the MYO15A gene. This mutation is the first to be reported in the world and affects the first MyTH4 domain of the protein.
کلیدواژه‌های انگلیسی مقاله Hearing loss, Iran, Linkage analysis, MYO15A, Mutation
نویسندگان مقاله سمیه رییسی | somayeh reiisi
department of genetics, faculty of basic sciences, university of shahrekord, shahrekord, iran


محمد امین طباطبایی فر | mohammad amin tabatabaiefar
medical genetics dept., isfahan university of medical sciences, medical genetics dept., national institute of genetic engineering and biotechnology nigeb , isfahan, iran

سازمان اصلی تایید شده: پژوهشگاه ملی مهندسی ژنتیک و زیست فناوری

محمد حسین صنعتی | mohammad hosein sanati
medical genetics dept., national institute of genetic engineering and biotechnology nigeb

سازمان اصلی تایید شده: پژوهشگاه ملی مهندسی ژنتیک و زیست فناوری

مرتضی هاشم زاده چالشتری | morteza hashemzadeh chaleshtori
cellular and molecular research center, shahrekord university of medical sciences, shahrekord, iran
نشانی اینترنتی http://ijbms.mums.ac.ir/article_7363.html
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Original Article
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