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

doi:10.2169/internalmedicine.0959-18

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 journal › Article › peer-review

5 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	603-607
Number of pages	5
Journal	Internal Medicine
Volume	58
Issue number	4
DOIs	https://doi.org/10.2169/internalmedicine.0959-18
Publication status	Published - 2019

Keywords

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

ASJC Scopus subject areas

Internal Medicine

Access to Document

10.2169/internalmedicine.0959-18

Cite this

@article{40c685c374044c5bbdeb13ca26f9f984,

title = "Clinical diversity in patients with anderson-fabry disease with the R301Q mutation",

abstract = "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.",

keywords = "Anderson-Fabry disease, Hypertrophic cardiomyopathy, Renal failure, ɑ-galactosidase mutant (R301Q)",

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

note = "Publisher Copyright: {\textcopyright} 2019 The Japanese Society of Internal Medicine.",

year = "2019",

doi = "10.2169/internalmedicine.0959-18",

language = "English",

volume = "58",

pages = "603--607",

journal = "Internal Medicine",

issn = "0918-2918",

publisher = "Japanese Society of Internal Medicine",

number = "4",

}

TY - JOUR

T1 - Clinical diversity in patients with anderson-fabry disease with the R301Q mutation

AU - Yamamoto, Saori

AU - Nagasawa, Tasuku

AU - Sugimura, Koichiro

AU - Kanno, Atsuhiro

AU - Tatebe, Shunsuke

AU - Aoki, Tatsuo

AU - Sato, Haruka

AU - Kozu, Katsuya

AU - Konno, Ryo

AU - Nochioka, Kotaro

AU - Satoh, Kimio

AU - Shimokawa, Hiroaki

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Anderson-Fabry disease

KW - Hypertrophic cardiomyopathy

KW - Renal failure

KW - ɑ-galactosidase mutant (R301Q)

UR - http://www.scopus.com/inward/record.url?scp=85062396691&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85062396691&partnerID=8YFLogxK

U2 - 10.2169/internalmedicine.0959-18

DO - 10.2169/internalmedicine.0959-18

M3 - Article

C2 - 30333391

AN - SCOPUS:85062396691

VL - 58

SP - 603

EP - 607

JO - Internal Medicine

JF - Internal Medicine

SN - 0918-2918

IS - 4

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this