ABSTRACT
While hearing loss has been considered to be a very heterogeneous disorder, mutations in Gap junction beta 2 [GJB2] gene encoding Connexin 26 [Cx26] protein are the major cause of autosomal recessive and sporadic non-syndromic 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 seventy two hearing impaired subjects were studied from 210 families obtained from two large cities of Iran [Tehran and Tabriz]. Twenty four different genetic variants were identified. Cx26 mutations were found in 53 of the 210 families [25.2%] including T8M, 35delG, W24X, R32H, V37I, E47X, 167delT, delE120, Y136X, R143W, R184P, 235delC and V27I+E114G. Homozygosity and compound heterozygosity for the Cx26 mutations were found in 39 of 210 [18.5%] families. Homozygosity for the 35delG mutation was the most common that causes hearing loss in 28 [13.3%] patients. Six novel variants H16R, E101E, K102Q, G200R, 327delG and G130A were detected in this study. As a conclusion, the present survey revealed that the rate of mutation in Cx26 gene in our area is lower than in Europe; nevertheless, this rate is regarded as a considerable cause of deafness in the cited provinces in Iran