Connexin 26 mutations in congenital SNHL in indian population

Introduction: Hearing impairment is a sensory disability that affects millions of people all over the world. Fifty percent of these cases are hereditary. Two genes have been localized to DFNB locus (GJB2 & GJB6) on chromosome 1 3 which have been commonly implicated in autosomal recessive causes of deafness among which the Connexin 26 mutation is the most common. Materials and Methods: Twenty-seven unrelated Indian patients between the ages of 1 and 23 years with nonsyndromic congenital sensorineural hearing loss for GJB2 mutations, specifically for W24X. Analysis was done by the polymerase chain reaction (PCR) Restriction fragment length polymorphism RFLP and sequencing methods. Results: Seven out of these 27 subjects were found to have the W24X mutation, implying a frequency of 26% (7/27). Conclusion: Our results are in concordance with what has been reported in world literature. We also showed a 1 00% concordance between the PCR RFLP and sequencing methods.