Connexin mutations in deafness

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