title: A mutant mRNA expression in an endomyocardial biopsy sample obtained from a patient with a cardiac variant of Fabry disease caused by a novel acceptor splice site mutation in the invariant AG of intron 5 of the α-galactosidase A gene.
abstract: We herein describe the case of a 58-year-old man who presented with dilated-phase hypertrophic cardiomyopathy (HCM) and required an implantable cardioverter defibrillator implant. Subsequently, the patient was diagnosed with Fabry disease (FD), which was suspected based on the results of an endomyocardial biopsy and diagnosed following demonstration of deficient α-galactosidase A (GLA) activity. Molecular studies showed a novel point mutation in the 3' splice site consensus sequence of intron 5 in the gene encoding GLA that created a new splicing site, resulting in the expression of mutant mRNA. FD should be considered a cause of HCM in patients with severe tachyarrhythmia without other remarkable manifestations of FD.
authors.affiliation: Department of Cardiovascular Biology and Medicine, Niigata University Graduate School of Medical and Dental Sciences, Japan.
authors.forename: Tohru
authors.initials: T
authors.lastname: Watanabe
authors.forename: Haruo
authors.initials: H
authors.lastname: Hanawa
authors.forename: Tomoyasu
authors.initials: T
authors.lastname: Suzuki
authors.forename: Shuang
authors.initials: S
authors.lastname: Jiao
authors.forename: Kaori
authors.initials: K
authors.lastname: Yoshida
authors.forename: Minako
authors.initials: M
authors.lastname: Ogura
authors.forename: Yukako
authors.initials: Y
authors.lastname: Ohno
authors.forename: Yuka
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ito
authors.forename: Takeshi
authors.initials: T
authors.lastname: Kashimura
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Obata
authors.forename: Akinori
authors.initials: A
authors.lastname: Sato
authors.forename: Takuya
authors.initials: T
authors.lastname: Ozawa
authors.forename: Makoto
authors.initials: M
authors.lastname: Kodama
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Sakuraba
authors.forename: Tohru
authors.initials: T
authors.lastname: Minamino
mesh_terms: D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics*; D005786:Gene Expression Regulation; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009206:Myocardium / Q000473:pathology*; D022821:RNA Splice Sites / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics*; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D012333:RNA, Messenger; C576330:GLA protein, human; D000519:alpha-Galactosidase