The 35delG mutation in the gap junction protein, β2, 26kDa (
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