Connexin 26: Required for normal auditory function

Philip M. Kelley, Edward Cohn, William J. Kimberling

Research output: Contribution to journalReview article

29 Scopus citations

Abstract

A single base deletion mutation, 35delG, in the gene (GJB2/DFNB1)(OMIM 121011/220290) encoding the gap junction protein, connexin 26 is the most important single cause of genetic hearing loss in European and American populations. It is the cause of one of the most common human genetic disorders with a frequency similar to cystic fibrosis. Mutations in this connexin are associated with skin disorders. (C) 2000 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)184-188
Number of pages5
JournalBrain Research Reviews
Volume32
Issue number1
DOIs
Publication statusPublished - Mar 24 2000

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Keywords

  • Connexin 26
  • Deafness
  • Hearing loss
  • Mutation

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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