G ap junctions composed of connexins (Cx) are intercellular channels that provide a mechanism of synchronised cellular response facilitating the metabolic and electronic functions of the cell. At least 20 human Cx genes have been described, many of which harbour germline mutations that are associated with a variety of human diseases. Recessive mutations in the coding region of GJB2 encoding Cx2...

The molecular etiology of nonsyndromic sensorineural hearing loss (SNHL) in subjects with only one detectable autosomal recessive GJB2 mutation is unclear. Here, we report GJB2 single heterozygotes with various final genetic diagnoses and suggest appropriate diagnostic strategies. A total of 160 subjects with SNHL without phenotypic markers were screened for GJB2 mutations. Single-nucleotide va...

Recently, molecular testing for GJB2 mutations has become the standard of care for the diagnosis of patients with non syndromic hearing impairment of unknown cause. The aims of this study are to determine the association between GJB2 mutation and GJB6 and to report the variation of mutations in deaf students who have heterozygous GJB2. This retrospective study was conducted at Universiti Kebang...

G ap junctions composed of connexins (Cx) are intercellular channels that provide a mechanism of synchronised cellular response facilitating the metabolic and electronic functions of the cell. At least 20 human Cx genes have been described, many of which harbour germline mutations that are associated with a variety of human diseases. Recessive mutations in the coding region of GJB2 encoding Cx2...

AIMS Mutations in the GJB2 gene-encoding connexin 26 protein are the main cause for autosomal recessive nonsyndromic hearing loss worldwide. In this study, we assessed the contributions made by GJB2 and del(GJB6-D13S1830) mutations to the autosomal recessive nonsyndromic deafness genetic load in Iranian Azeri Turkish patients. RESULTS Probands from 209 different nuclear families were investig...

Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However, genetic diagnosis is complicated by the fact that 10%-50% of affected subjects with GJB2 mutations carry only one mutant allele. Recently, a deletion truncating the GJB6 gene (encoding connexin-30), n...

BACKGROUND The common GJB2 gene mutation (35delG) has been previously reported from Iranian patients that were affected with nonsyndromic autosomal recessive deafness. We, therefore, for the first time, investigated the prevalence and frequency of the GJB2 gene mutation in the Iranian deaf population with Arabian origins. MATERIALS AND METHODS We amplified and sequenced the entire coding sequ...