Mutations in the GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries. We report here on a novel point mutation in GJB2, p.L76P (c.227C>T), in compound heterozygosity with a c.35delG mutation, in two Brazilian sibs, one presenting mild and the other profound nonsyndromic neurosensorial hearing impairment. Their father, who carried a ...

Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 g...

OBJECTIVE To evaluate difficulties encountered in genetic counseling in deaf children carrying connexin 26 gene (CX26 or GJB2) mutations. DESIGN Prospective study. SETTING Outpatients, tertiary referral center. PATIENTS Ninety-six unrelated deaf children in whom CX26 mutations had been detected consecutively. Children were recruited to a center for genetic counseling for deaf children, an...

Deafness is a partial or total hearing loss that can appear at any ages and with different degrees of severity. About 50% of hearing disorders have a genetic origin, and among them, the nonsyndromic sensorineural deafness represents 70% of the cases. Out of these, the 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness has not been characterized enough at mo...

despite the enormous heterogeneity of genetic hearing loss, mutations in the gjb2 (connexin 26) gene located on “dfnb1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (arnshl) in some populations. this study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least on...

the 35delg mutation in the connexin 26 gene (cx26), at the dnfb1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (arnshl). we have studied a total of 224 deaf cases from 189 families in two populations of iran (sistan va bluchestan and hormozgan provinces) by prescreening nested pcr, polyacrylamide gel electrophoresis and consequent direct s...