Article
W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
Clinical genetics - 1 Apr 2001
Tekin M, Arnos K S, Xia X J, Oelrich M K, Liu X Z, Nance W E, Pandya A
Abstract excerpt
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...
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