Abstract
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.
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White, T., Deans, M., Kelsell, D. et al. Connexin mutations in deafness. Nature 394, 630–631 (1998). https://doi.org/10.1038/29202
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DOI: https://doi.org/10.1038/29202
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