Functional consequences of missense mutation in the GJB2 gene associated with non-synclromic hearing loss

摘要

Mutations in the GJB2 gene are the most common cause of inherited non-syndromic deafness. We identified T86R missense mutation of GJB2 in a Korean HL family. We studied protein localization and gap junction (GJ) functions in cells transfected with fluorescent proteins. The T86R mutant protein did not form GJs. When T86R was co-expressed with WT, ionic and biochemical coupling was normal. These studies revealed recessive pathogenic mechanisms of p.T86R mutation identified in the Korean family.