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Connexin mutations in deafness

Author

Listed:
  • Thomas W. White

    (Harvard Medical School)

  • Michael R. Deans

    (Harvard Medical School)

  • David P. Kelsell

    (Centre for Cutaneous Research, St Bartholomews and the Royal London Hospital)

  • David L. Paul

    (Harvard Medical School)

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.

Suggested Citation

  • Thomas W. White & Michael R. Deans & David P. Kelsell & David L. Paul, 1998. "Connexin mutations in deafness," Nature, Nature, vol. 394(6694), pages 630-631, August.
    • Handle: RePEc:nat:nature:v:394:y:1998:i:6694:d:10.1038_29202
    DOI: 10.1038/29202
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