title: A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.
abstract: The Weber-Cockayne subtype of epidermolysis bullosa simplex is an inherited skin-fragility disorder characterized by basal keratinocyte lysis and epidermal blistering confined primarily to the hands and feet. The disorder results from a mutation in either the keratin 5 or keratin 14 gene, which encode the peptide components of the obligate heterodimeric keratin intermediate filaments of the basal cell. We have determined that a T-->G substitution mutation in keratin 5, which results in a Ile-->Ser change at codon 161, is common among patients with the Weber-Cockayne disease variant, accounting for six of 13 cases tested. The observed high frequency of this mutation may result from either a mutational hot spot or a founder effect. The potential utility of this common mutation in confirming disease status in some at-risk individual is discussed.
authors.affiliation: Department of Medicine, University of Washington, Seattle, USA.
authors.forename: P
authors.initials: P
authors.lastname: Ehrlich
authors.forename: V P
authors.initials: VP
authors.lastname: Sybert
authors.forename: A
authors.initials: A
authors.lastname: Spencer
authors.forename: K
authors.initials: K
authors.lastname: Stephens
mesh_terms: D001483:Base Sequence; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D007633:Keratins