title: A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.
abstract: Left ventricular hypertrophy (LVH) is primarily or secondarily caused by a cardiovascular or systemic disease. The pattern of LVH is distinctive in hypertrophic or metabolic cardiomyopathy and differs from that seen in LVH caused by hypertension or aortic stenosis. A 42-year-old Japanese man had LVH similar to that with hypertrophic cardiomyopathy. The patient was diagnosed with glycogen storage disease type IIIa (GSD-IIIa). Echocardiography showed that he had severe LVH, and concomitant hepatomegaly and hypoglycemia, which led to measurement of glycogen debranching enzyme (GDE) activity; it was undetectable. Sequence analysis of the AGL gene encoding GDE showed a novel nonsense mutation: a C-to-T transition at codon 285 in exon 8, resulting in substitution of the arginine codon by the stop codon (R285X). The patient was homozygous for the mutation. Cardiomyopathy in this patient was caused by a nonsense mutation in the AGL gene. Five other Japanese GSD-IIIa patients over 30 years of age have all presented with cardiomyopathy, as well as hepatomegaly and hypoglycemia. Patients with LVH associated with hepatomegaly and hypoglycemia should undergo biochemical and genetic analyses for GSD-IIIa.
authors: Department of Integrated Medicine and Informatics, Ehime University Graduate School of Medicine, Shitsukawa, To-o 791-0295, Japan. aogimoto@m.ehime-u.ac.jp
authors: Akiyoshi
authors: A
authors: Ogimoto
authors: Minoru
authors: M
authors: Okubo
authors: Hideki
authors: H
authors: Okayama
authors: Yoon S
authors: YS
authors: Shin
authors: Yoriko
authors: Y
authors: Endo
authors: Tetsu
authors: T
authors: Ebara
authors: Katsuji
authors: K
authors: Inoue
authors: Tomoaki
authors: T
authors: Ohtsuka
authors: Hideki
authors: H
authors: Tahara
authors: Toshio
authors: T
authors: Murase
authors: Jistuo
authors: J
authors: Higaki
mesh_terms: D000328:Adult; D018389:Codon, Nonsense / Q000235:genetics*; D004247:DNA / Q000235:genetics; D004562:Electrocardiography; D005838:Genotype; D006004:Glycogen Debranching Enzyme System / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000235:genetics*; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D006004:Glycogen Debranching Enzyme System; D004247:DNA