W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness

M. Tekin, K. S. Arnos, X. J. Xia, M. K. Oelrich, X. Z. Liu, W. E. Nance, A. Pandya

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

Although more than 50% of recessive non-syndromic deafness is attributed to mutations in the connexin 26 (Cx26) gene, only a few reported families have shown dominant transmission of the trait. The W44C mutation was originally reported in two families from the same geographic region of France, which exhibited dominant non-syndromic hearing loss. In this report, we describe a third family with early-onset severe-to-profound non-syndromic hearing loss segregating with the W44C mutation. Our observation places W44C among recurrent mutations in the Cx26 gene and emphasizes the importance of screening for this as well as other Cx26 mutations in autosomal dominant families.

Original languageEnglish (US)
Pages (from-to)269-273
Number of pages5
JournalClinical Genetics
Volume59
Issue number4
DOIs
StatePublished - Apr 28 2001
Externally publishedYes

Keywords

  • Connexin 26
  • Deafness
  • Dominant inheritance
  • Heterozygous mutation

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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