High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications

Hearing Impairment (HI) affects one in 500 newborns, making it the most common congenital sensory disorder worldwide. Despite extraordinary genetic heterogeneity in the complex synchronization of the hearing process, mutation in one gene, the gap junction beta 2 (GJB2) gene encoding the connexin 26 protein, accounts for more than 50% of inherited hearing loss across various populations in the world. Our present study was aimed at understanding the contribution of GJB2 mutations to nonsyndromic hearing loss in a special cohort of assortatively mating HI individuals and their families from the state of Kerala in southern India