title: Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
abstract: We report novel keratin 5 and 14 gene mutations in four unrelated German families with the localized subtype of the dominantly inherited blistering disease epidermolysis bullosa simplex Weber-Cockayne (MIM# 131800). The mutations are located in the keratin 14 L12 linker region (D273G), the keratin 5 L12 linker (M327K and D328H), and the H1 domain of keratin 5 (P156L). These mutations add to those previously reported and provide further evidence of phenotype-genotype correlations in epidermolysis bullosa simplex subtypes. The above mutations in mildly affected patients underline the relevance of the keratin linker regions for the epidermolysis bullosa simplex Weber-Cockayne phenotype and keratin filament integrity. In addition, they confirm that the gene segments encoding the linker regions represent hotspots for mutations.
authors.affiliation: Klinik und Poliklinik für Dermatologie und Venerologie, Universität zu Köln, Germany.
authors.forename: F B
authors.initials: FB
authors.lastname: Müller
authors.forename: W
authors.initials: W
authors.lastname: Küster
authors.forename: L
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: B P
authors.initials: BP
authors.lastname: Korge
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D016110:Epidermolysis Bullosa Simplex / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005858:Germany / Q000453:epidemiology; D006801:Humans; D053547:Keratin-14; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D017421:Sequence Analysis
chemical_list: C507540:KRT14 protein, human; D053547:Keratin-14; D007633:Keratins