title: Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
abstract: We report a missense mutation in the gap junction protein beta-3 (encoding Connexin 31), which was detected in only the affected members of a family in which the autosomal dominant skin disease erythrokeratoderma variabilis was segregating. The nucleotide change results in an arginine to proline substitution in codon 42. This residue is positioned on the first transmembrane/first extracellular domain of the gap junction protein with the mutation replacing a negatively charged residue with a nonpolar residue. This change may disrupt the conformation of the protein and voltage gating polarity leading to impaired channel function.
authors.affiliation: Centre for Cutaneous Research, St. Bartholomew's and the Royal London Hospital School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Wilgoss
authors.forename: I M
authors.initials: IM
authors.lastname: Leigh
authors.forename: M R
authors.initials: MR
authors.lastname: Barnes
authors.forename: P
authors.initials: P
authors.lastname: Dopping-Hepenstal
authors.forename: R A
authors.initials: RA
authors.lastname: Eady
authors.forename: J M
authors.initials: JM
authors.lastname: Walter
authors.forename: C T
authors.initials: CT
authors.lastname: Kennedy
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
mesh_terms: D017630:Connexins / Q000235:genetics*; D003873:Dermatitis, Exfoliative / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D007642:Keratosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation
chemical_list: D017630:Connexins; C068044:GJB3 protein, human