Human Genetics

, Volume 89, Issue 1, pp 29–32

Point mutations in the upstream region of the α-galactosidase A gene exon 6 in an atypical variant of Fabry disease

  • Satoshi Ishii
  • Hitoshi Sakuraba
  • Yoshiyuki Suzuki
Original Investigations

DOI: 10.1007/BF00207037

Cite this article as:
Ishii, S., Sakuraba, H. & Suzuki, Y. Hum Genet (1992) 89: 29. doi:10.1007/BF00207037

Summary

Single point mutations in the upstream region of exon 6 of the α-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg→Gln (902G→A) in a case that has already been published and 279Gln→Glu (835C→G) in a new case. They both expressed markedly low, but significant, amounts of residual activity in COS-1 cells. In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly→Arg (982G→A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu→Gln (196G→C)/112Arg→Cys (334C→T), in exon 2 in the other. We conclude, on the basis of the results recorded in this study and those in previous reports, that the pathogenesis of atypical Fabry disease is closely associated with point mutations in the upstream region of exon 6 of the α-galactosidase A gene.

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • Satoshi Ishii
    • 1
  • Hitoshi Sakuraba
    • 1
  • Yoshiyuki Suzuki
    • 1
  1. 1.Department of Clinical GeneticsThe Tokyo Metropolitan Institute of Medical ScienceTokyoJapan