Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes

Ann Neurol. 1991 May;29(5):560-4. doi: 10.1002/ana.410290517.


Polymerase chain reaction amplification of reverse-transcribed messenger RNA from a patient with Fabry disease revealed a 13-base pair deletion in the 5' region (exon 1) of alpha-galactosidase A complementary DNA. This gene rearrangement was not detected by Southern or Northern analysis. Short direct repeats were present around the breakpoints, and considered to be of pathogenetic significance. Gene diagnosis of the mother and a female cousin was successfully achieved by polymerase chain reaction amplification of genomic DNA; the former as a Fabry disease heterozygote and the latter as a normal homozygote.

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • Fabry Disease / genetics*
  • Female
  • Gene Amplification
  • Genetic Carrier Screening*
  • Genetic Testing
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Polymerase Chain Reaction
  • alpha-Galactosidase / genetics*


  • alpha-Galactosidase