title: W44C mutation in the connexin 26 gene associated with dominant non-syndromic deafness.
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.
authors: Department of Human Genetics, Medical College of Virginia/Virginia Commonwealth University, Richmond, VA 23298-0033, USA.
authors: M
authors: M
authors: Tekin
authors: K S
authors: KS
authors: Arnos
authors: X J
authors: XJ
authors: Xia
authors: M K
authors: MK
authors: Oelrich
authors: X Z
authors: XZ
authors: Liu
authors: W E
authors: WE
authors: Nance
authors: A
authors: A
authors: Pandya
mesh_terms: D000293:Adolescent; D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26