Mutation of the GJB2 gene, which encodes the connexin 26 (Cx26) gap junction (GJ) protein, is the most common cause of hereditary, sensorineural hearing loss. Cx26 is not expressed in hair cells, but is widely expressed throughout the non-sensory epithelial cells of the cochlea. Most GJB2 mutations produce non-syndromic deafness, but a subset produces syndromic deafness in which profound hearin...

It is estimated that about one half of all congenital deafness and/or hearing impairment is inherited and that approximately one third of this communicative disorder is associated with syndromic abnormalities. The remainder of inherited deafness occurs as an isolated entity, independent of alterations in physical status or any disease process. This latter group typically presents with no clinic...