A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk

Genomics. 1995 Sep 1;29(1):282-4. doi: 10.1006/geno.1995.1246.

Abstract

Mutations in the three genes (LAMA3, LAMB3, and LAMC2) that encode the three chains (alpha 3, beta 3, and gamma 2, respectively) of laminin 5, a protein involved in epidermal-dermal adhesion, have been established as the genetic basis for the inherited blistering skin disorder, Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we performed mutational analysis on genomic DNA from a child with H-JEB and identified a nonsense mutation in the alpha 3 chain gene (LAMA3) consisting of a homozygous C-to-T transition resulting in a premature termination codon (CGA-->TGA) on both alleles. The parents were shown to be heterozygous carriers of the same mutation. Direct mutation analysis was used to perform DNA-based prenatal diagnosis from a chorionic villus biopsy at 10 weeks' gestation in a subsequent pregnancy. The fetus was predicted to be genotypically normal with respect to the LAMA3 mutation.

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*
  • Child
  • Chorionic Villi Sampling
  • DNA Mutational Analysis
  • DNA Primers
  • Epidermolysis Bullosa, Junctional / genetics*
  • Female
  • Homozygote
  • Humans
  • Macromolecular Substances
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Point Mutation*
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • Cell Adhesion Molecules
  • DNA Primers
  • Macromolecular Substances
  • kalinin

Associated data

  • GENBANK/L34155