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W44C mutation in the connexin 26 gene associated with dominant non‐syndromic deafness
Author(s) -
Tekin M,
Arnos KS,
Xia XJ,
Oelrich MK,
Liu XZ,
Nance WE,
Pandya A
Publication year - 2001
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2001.590409.x
Subject(s) - genetics , connexin , mutation , hearing loss , gene , biology , gene mutation , medicine , audiology , gap junction , intracellular
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.