title: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
abstract: Recently, mutations in two gap junction genes, GJB2 and GJB3 (encoding Connexin 26 and Connexin 31, respectively), have been shown to underlie either inherited hearing loss and skin disease or both disorders. In this study, we have extended our analysis of a small family in which palmoplantar keratoderma and various forms of deafness is segregating. In addition to the previously described sequence variant M34T in GJB2, two other sequence variants were identified: D66H also in GJB2 and R32W in GJB3. As D66H segregated with the skin disease, it is likely to underlie the palmoplantar keratoderma. The other two gap junction variants identified may contribute to the type of hearing impairment and the variable severity of the skin disease in the family.
authors.affiliation: Centre for Cutaneous Research, St Bartholomew's and The Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK. kelsell@icrf.icnet.uk
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
authors.forename: A L
authors.initials: AL
authors.lastname: Wilgoss
authors.forename: G
authors.initials: G
authors.lastname: Richard
authors.forename: H P
authors.initials: HP
authors.lastname: Stevens
authors.forename: C S
authors.initials: CS
authors.lastname: Munro
authors.forename: I M
authors.initials: IM
authors.lastname: Leigh
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004247:DNA; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D020180:Heteroduplex Analysis; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009154:Mutation; D017354:Point Mutation
chemical_list: D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26; C068044:GJB3 protein, human; D004247:DNA