Clinical diversity in patients with anderson-fabry disease with the R301Q mutation

Saori Yamamoto, Tasuku Nagasawa, Koichiro Sugimura, Atsuhiro Kanno, Shunsuke Tatebe, Tatsuo Aoki, Haruka Sato, Katsuya Kozu, Ryo Konno, Kotaro Nochioka, Kimio Satoh, Hiroaki Shimokawa

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A (α-GAL A). We herein report 10 cases of AFD in 5 families (3 men and 7 women) that were found to have a specific common mutation in R301Q [G-to-A transition in exon 6 (codon 301) resulting in the replacement of a glutamine with an arginine residue]. We evaluated their clinical characteristics, residual enzymatic activity, and plasma concentrations of globotriaosylsphingosine (Lyso-Gb3). Although all 10 cases had cardiac and renal manifestations in common, their clinical manifestations were markedly divergent despite the same genetic abnormality.

Original languageEnglish
Pages (from-to)603-607
Number of pages5
JournalInternal Medicine
Issue number4
Publication statusPublished - 2019


  • Anderson-Fabry disease
  • Hypertrophic cardiomyopathy
  • Renal failure
  • ɑ-galactosidase mutant (R301Q)


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