A novel 355–357delGAG mutation and frequency of connexin-26 (GJB2) mutations in Iranian patients
نویسندگان
چکیده
منابع مشابه
report of a new mutation and frequency of connexin 26 gene (gjb2) mutations in patients from three provinces of iran
autosomal recessive and sporadic non-syndromic hearing loss (arsnshl) is the major form of hereditary deafness.mutations in the gjb2 gene encoding the gap-junction protein connexin 26 have been identified to be highly associated with arsnshl. in this study we have analyzed 196 deaf subjects from 179 families having one or more deaf children in 3 proviences of iran, including kordestan, khuzesta...
متن کامل"two novel mutations and predominant 35delg mutation in the connexin 26 gene (gjb2) in iranian populations"
mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...
متن کاملProfile of Iranian GJB2 Mutations in Young Population with Novel Mutation
Objective(s) Despite the enormous heterogeneity of genetic hearing loss, most non-syndromic hearing losses are caused by mutations in the GJB2 gene. We aimed to characterize the mutation profiles of 100 Iranian deaf patients that were under 10 years old. Materials and Methods Patients were tested with direct sequencing of entire coding region of the GJB2 gene. Results Eight known mutations...
متن کاملFrequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment
Background Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier frequency (0.5-5.4%) across different ethnic groups. This study aimed to determine the prevalence of common GJB2 mutations in Syrian patients with profo...
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...
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ژورنال
عنوان ژورنال: Journal of Genetics
سال: 2009
ISSN: 0022-1333,0973-7731
DOI: 10.1007/s12041-009-0054-6