Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients
نویسندگان
چکیده
منابع مشابه
Connexin 26 Gene Mutations in Non-Syndromic Hearing Loss Among Kuwaiti Patients
OBJECTIVE To study connexin 26 (Cx26) gene mutations among autosomal recessive non-syndromal hearing loss in Kuwaiti patients and evaluate their effect on phenotypes. SUBJECTS AND METHODS This cross sectional study included 100 patients aged between 6 months and 18 years, who were referred to the Sheikh Salem Al-Ali Centre for audiology and speech evaluation of autosomal recessive non-syndrom...
متن کاملMutations of the Connexin 26 gene in families with non-syndromic hearing loss.
Autosomal recessive non-syndromic hearing impairment (ARNSHI) is caused by mutations in the gap junction gene GJB2 (Connexin 26; Cx26) in numerous human populations. The aim of this study was to determine the frequency of six GJB2 mutations in 50 Syrian families with congenital deafness and in 180 controls. PCR-RFLP was used to detect the 35delG, 167delT, M34T, W24X, W77R and E47X mutations, an...
متن کاملConnexin 26 and autosomal recessive non-syndromic hearing loss
It has long been recognized that heredity plays a major role in hearing impairment. Although the facts about the genetic basis of hearing loss have fascinated both clinicians and geneticists for a long time, it is only within the last few years that the genes and molecular mechanisms underlying deafness have begun to be discovered. There is a great deal of genetic heterogeneity in deafness. Thi...
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...
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ژورنال
عنوان ژورنال: Medical Principles and Practice
سال: 2014
ISSN: 1423-0151,1011-7571
DOI: 10.1159/000348304