Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness
نویسندگان
چکیده
منابع مشابه
Study of frequency and spectrum of GJB2 gene mutations in non-syndromic hearing loss patients of Semnan province
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
متن کاملRelative frequency of GJB2 gene mutations in autosomal recessive non-syndromic hearing loss (ARNSHL) patients in Lorestan population
Background: Congenital hearing loss due to different genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. Materials and methods: The aim of this study was to study the frequency of GJB2 Mutations in Lor...
متن کاملAnalysis of GJB2 (Connexin 26) Mutation in Patients with Congenital Non-Syndromic Sensorineural Hearing Loss
South European cases with autosomal recessive inherited hearing loss (4,8). The frequent incidence of the 35delG mutation requires analyzing both affected individuals and parents (in terms of being carriers) for genetic counseling. The aim of this study was to determine the frequency of GJB2 gene mutations in patients with congenital NSSNHL and to investigate new mutations of the GJB2 gene in o...
متن کاملEvaluation of GJB2 and GJB6 Mutations in Patients Afflicted with Non-syndromic Hearing Loss
Background Non-syndromic hearing loss (NSHL) is assumed as one of the highly prevalent congenital defects in the world. In this regard, gap junction protein beta 2(GJB2), and gap junction protein beta 6(GJB6) mutations are considered as the leading congenital causes of deafness. The present study aimed to assess the prevalence of GJB2 and GJB6 mutations in NSHL cases. Materials and Methods This...
متن کامل"deafness –associated connexin 26 gene (gjb2) mutations in iranian population"
mutations in the gjb2 gene at the dfnb1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (arnshl) in many populations. a single mutation, at position 35 (35delg) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most european, north american and mediterranean populations. in this study we have ...
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ژورنال
عنوان ژورنال: Indian Journal of Otolaryngology and Head & Neck Surgery
سال: 2015
ISSN: 2231-3796,0973-7707
DOI: 10.1007/s12070-015-0950-4