Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex

J Invest Dermatol. 1998 Nov;111(5):900-2. doi: 10.1046/j.1523-1747.1998.00374.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Epidermolysis Bullosa Simplex / epidemiology
  • Epidermolysis Bullosa Simplex / genetics*
  • Female
  • Genetic Variation
  • Germany / epidemiology
  • Humans
  • Keratin-14
  • Keratins / chemistry
  • Keratins / genetics*
  • Male
  • Pedigree
  • Point Mutation
  • Protein Structure, Tertiary
  • Sequence Analysis

Substances

  • KRT14 protein, human
  • Keratin-14
  • Keratins