Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5)

Nat Genet. 1994 Mar;6(3):299-304. doi: 10.1038/ng0394-299.

Abstract

We have linked Herlitz's junctional epidermolysis bullosa (H-JEB) to the gene (LAMC2) encoding the gamma 2 subunit of nicein/kalinin, an isolaminin (laminin-5) expressed by basal keratinocytes. In four H-JEB kindreds, a maximum two-point lod score of 5.33 at theta = 0 was observed between a microsatellite near LAMC2 at 1q25-31 and the disease. In one family, a homozygous point mutation leading to a premature stop codon (CGA to TGA) was identified in exon 3 of the gene. The segregation of the mutated allele implicates the mutation in the pathology of the disorder and corroborates the linkage results.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Cell Adhesion Molecules / genetics*
  • DNA Primers / genetics
  • Epidermolysis Bullosa, Junctional / genetics*
  • Female
  • Gene Expression
  • Genetic Linkage
  • Humans
  • Laminin / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation
  • Oligodeoxyribonucleotides / genetics
  • Pedigree
  • Repetitive Sequences, Nucleic Acid

Substances

  • Cell Adhesion Molecules
  • DNA Primers
  • Laminin
  • Oligodeoxyribonucleotides
  • kalinin