title: Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.
abstract: Mutations in genes encoding the keratin intermediate filaments expressed in basal cells have been identified in some families with epidermolysis bullosa simplex as the proximate cause of the fragility. We have systematically scanned genomic sequences of one of these keratins, keratin 14, for mutations in patients from 49 apparently independent kindreds using single-strand conformation polymorphism analysis. The ten mutations identified are clustered at three sites--the ends of the helices and the L12 linker region, mutation sites that have been identified in past, more limited studies. Early onset of blistering in these ten families is correlated with more widespread distribution of lesions.
authors.affiliation: Department of Dermatology, San Francisco General Hospital, University of California 94110, USA.
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.forename: J M
authors.initials: JM
authors.lastname: Bonifas
authors.forename: K
authors.initials: K
authors.lastname: Matsumura
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: W A
authors.initials: WA
authors.lastname: Leyden
authors.forename: E H
authors.initials: EH
authors.lastname: Epstein
mesh_terms: D017668:Age of Onset; D001483:Base Sequence; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005260:Female; D005796:Genes; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan / Q000453:epidemiology; D007633:Keratins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D007633:Keratins