Connexin 26 R143W Mutation Associated with Recessive Nonsyndromic Sensorineural Deafness in Africa

Abstract

Recently, the pathologic process underlying nonsyndromic forms of inherited hearing impairment has been studied at the molecular level.¹ The previously localized DFNA3 and DFNB1 loci, which are associated with nonsyndromic deafness of dominant and recessive inheritance, have in white families been attributed to sense (M34T) and nonsense (W24X or W77X) mutations, respectively, of the gene encoding the gap-junction protein connexin 26 (Cx26 ).¹