Abstract

The 35delG mutation in the gap junction protein, beta 2, 26kDa (GJB2) gene is the most common mutation that has been found in children with non syndromic hearing loss. Testing for the GJB2 gene mutation is simple and can directly answer the concerns of the parents about cause of the disorder and prognosis for their children. Cochlear implantation (CI) is one of the methods of hearing rehabilitation in patients with complete hearing loss. The present study was designed for genetic assessment of children who were referred for CI. Connexin 26 (Cx26) gene analyses were performed on 42 children with non syndromic hearing loss who were referred to the Baqiyatallah Hospital, Tehran, Iran for genetic consultation and CI. Clinical history was obtained and an examination conducted on each individual. Genomic DNA was extracted from peripheral blood and mutation identification of the Cx26 gene was performed by polymerase chain reaction (PCR) amplification and direct sequencing of the coding sequence of the gene. Cochlear implantation was performed for all patients and treatment response was assessed for all of them based on speech intelligibility rating (SIR) before and after CI. We found six patients (14.3) with the 35delG mutation on the Cx26 gene, two homozygotes and four heterozygotes. No other mutation was detected. Treatment response in children with the homozygous 35delG mutation was better than in heterozygous patients, and treatment response in children with the mutation was better than in children with no mutation. Mutation screening for finding deafness causing mutations in the GJB2 gene is a useful predictor of post-implantation speech perception. We suggest microarray or other advanced mutation detection methods for assessment of other genes that might be responsible for non syndromic deafness.