title: Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
abstract: Epidermolysis bullosa simplex is a disease in which keratin gene mutations cause the production of defective intermediate filaments, which leads in turn to epidermal basal cell fragility and blistering. The inheritance in nearly all kindreds is autosomal dominant, most kindreds have missense mutations, and the encoded proteins appear to exert a dominant negative function. One previously reported patient with generalized blistering had a fully dominant mutation of keratin 5; in that kindred a homozygote was affected no more severely than the heterozygotes. By contrast we report here a keratin 14 mutation that causes blistering limited to the hands and feet in heterozygotes, but homozygotes have more severe, widespread blistering of the skin and mucous membranes. Thus keratin gene mutations may be not only fully recessive or fully dominant but also partially dominant as well.
authors.affiliation: Department of Dermatology, University of California San Francisco, U.S.A.
authors.forename: Z L
authors.initials: ZL
authors.lastname: Hu
authors.forename: L
authors.initials: L
authors.lastname: Smith
authors.forename: S
authors.initials: S
authors.lastname: Martins
authors.forename: J M
authors.initials: JM
authors.lastname: Bonifas
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.forename: E H
authors.initials: EH
authors.lastname: Epstein
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007633:Keratins / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology
chemical_list: D007633:Keratins