A Descriptive Observational Study of GJB2 and GJB6 Mutations in Familial Autosomal Recessive Non-syndromic Hearing...

Mutations in the genes, GJB2 and GJB6 play an important role in autosomal recessive, non-syndromic hearing loss. This study is aimed to detect the association of mutations in GJB2 and GJB6 genes in familial autosomal recessive non-syndromic hearing impairment cases. We included 26 families with at least two affected individuals having congenital bilateral, non-syndromic sensorineural hearing loss. Blood samples were drawn, DNA was extracted, and sent for multiplex PCR and Sanger sequencing. Of the 26 families analyzed, GJB2 mutations were detected in 9(34.6%) and GJB6 mutations were not detected in any of the families. GJB2 mutations are a major cause of congenital, non-syndromic hearing loss in this study population. This study also suggests that GJB6 mutations do not contribute to autosomal recessive non-syndromic hearing loss in the Indian population.