Novel trinucleotide deletion in Fabry's disease

Hum Genet. 1996 Apr;97(4):468-70. doi: 10.1007/BF02267068.

Abstract

We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutaneous marker of Fabry's disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Fabry Disease / genetics*
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Sequence Deletion / genetics*