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Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease

Authors
  • Kobayashi, Masahisa1
  • Ohashi, Toya1, 2
  • Kaneshiro, Eiko1
  • Higuchi, Takashi2
  • Ida, Hiroyuki1, 2
  • 1 The Jikei University School of Medicine, Department of Pediatrics, Tokyo, Japan , Tokyo (Japan)
  • 2 The Jikei University School of Medicine, Division of Gene Therapy, Research Center for Medical Sciences, Tokyo, Japan , Tokyo (Japan)
Type
Published Article
Journal
Journal of Human Genetics
Publisher
Springer Nature
Publication Date
Apr 15, 2019
Volume
64
Issue
7
Pages
695–699
Identifiers
DOI: 10.1038/s10038-019-0599-z
Source
Springer Nature
License
Yellow

Abstract

The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). In total, 73 different disease-causing mutations were identified: 41 missense (56.2%), 11 nonsense (15.1%), four in frame deletion (5.5%), 10 frameshift (13.7%), six splice site (8.2%), and one intronic (1.4%) mutations. The GLA mutations detected in later-onset phenotype patients with end-stage renal disease overlapped with those seen in classical patients, indicating that it is difficult to differentiate between these two phenotypes from gene mutations. Additionally, 33 families (28.7%) had amenable mutations to the pharmacological chaperone migalastat. In conclusion, our study is informative when considering genetic counseling and pharmacological chaperon therapy for Fabry disease.

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