Connexin mutations in deafness

Genetic deafness is one of the most prevalent inherited sensory disorders, affecting about 1 in 2,000 children. Mutations in the connexin 26 gene have been associated with autosomal recessive non-syndromic deafness (DFNB1)1. The connexin 26 gene is a member of the connexin family of genes, which encode intercellular channels comprising gap junctions2, and it is abundantly expressed in the organ of Corti1,3. Here we test the channel-forming ability of mutant connexin 26 proteins using a well-characterized in vitro system for functional expression of connexin channels4. We find that mutant connexin 26 proteins can act as dominant inhibitors of wild-type connexin 26 channel activity.