Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency

Clin Exp Dermatol. 2003 Jan;28(1):80-4. doi: 10.1046/j.1365-2230.2003.01190.x.

Abstract

We report the clinical and molecular findings in a patient with a mild form of recessive dystrophic epidermolysis bullosa and aortic insufficiency. To our knowledge, this is the first report of association between dystrophic epidermolysis bullosa and abnormalities of the aortic valve. Analysis of the COL7A1 gene has revealed two new mutations, a 20-bp duplication and a splice site mutation.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Aortic Valve Insufficiency / genetics*
  • Collagen Type VII / genetics*
  • Epidermolysis Bullosa Dystrophica / genetics*
  • Epidermolysis Bullosa Dystrophica / pathology
  • Genes, Recessive / genetics
  • Genotype
  • Humans
  • Male
  • Mutation / genetics
  • Pedigree
  • Phenotype

Substances

  • Collagen Type VII