Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Nat Genet. 1994 Mar;6(3):293-7. doi: 10.1038/ng0394-293.

Abstract

Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation within the dermal-epidermal basement membrane. Genes for the lamina lucida protein, kalinin/laminin 5, have been proposed as candidates for some forms of JEB, based on immunofluorescence analysis recognizing kalinin epitopes. We studied the cDNA of laminin gamma 2 chain for mutations in JEB using heteroduplex analysis. One patient showed a homozygous splice site mutation while another was heterozygous for a deletion-insertion, resulting in a premature termination codon in one allele. Our data implicate mutations in the laminin gamma 2 chain gene (LAMC2) in some forms of JEB.

MeSH terms

  • Base Sequence
  • Cell Adhesion Molecules / chemistry
  • Cell Adhesion Molecules / genetics*
  • DNA Primers / genetics
  • DNA, Complementary / genetics
  • Epidermolysis Bullosa, Junctional / genetics*
  • Epidermolysis Bullosa, Junctional / metabolism
  • Exons
  • Female
  • Genes, Recessive
  • Homozygote
  • Humans
  • Laminin / chemistry
  • Laminin / genetics*
  • Male
  • Molecular Sequence Data
  • Molecular Structure
  • Mutation
  • Pedigree
  • Point Mutation
  • Sequence Deletion

Substances

  • Cell Adhesion Molecules
  • DNA Primers
  • DNA, Complementary
  • Laminin
  • kalinin