Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

Eur J Hum Genet. 1996;4(4):219-24. doi: 10.1159/000472202.


The nature of the molecular lesions in the alpha-galactosidase A gene causing Fabry disease in 12 unrelated families from the United Kingdom and 4 from other European countries was determined in order to provide precise heterozygote detection and prenatal diagnosis for these families. The entire alpha-galactosidase A coding region and flanking intronic sequences were analyzed by amplification of genomic DNA and solid-phase direct sequencing or by SSCP analysis followed by solid-phase direct sequencing. Fourteen new mutations were identified including 10 missense mutations (M42V, R49S, C56Y, D92H, D93G, P205T, W236C, W287G, N298H, and W340R), 2 nonsense mutations (Q107X and Q119X) and 2 small deletions (257del18 and 1087del1). Together with the previously reported mutations, a total of 33 lesions in the alpha-galactosidase A gene have been identified in unrelated British families, further documenting the molecular genetic heterogeneity of this disease.

Publication types

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

MeSH terms

  • Fabry Disease / enzymology
  • Fabry Disease / genetics*
  • Female
  • Germany
  • Heterozygote
  • Humans
  • Ireland
  • Male
  • Middle Aged
  • Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA
  • Slovenia
  • United Kingdom
  • alpha-Galactosidase / genetics*


  • alpha-Galactosidase