Document Detail

A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.
MedLine Citation:
PMID:  17895567     Owner:  NLM     Status:  MEDLINE    
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.
Akiyoshi Ogimoto; Minoru Okubo; Hideki Okayama; Yoon S Shin; Yoriko Endo; Tetsu Ebara; Katsuji Inoue; Tomoaki Ohtsuka; Hideki Tahara; Toshio Murase; Jistuo Higaki
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Circulation journal : official journal of the Japanese Circulation Society     Volume:  71     ISSN:  1346-9843     ISO Abbreviation:  Circ. J.     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-09-26     Completed Date:  2007-12-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101137683     Medline TA:  Circ J     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  1653-6     Citation Subset:  IM    
Department of Integrated Medicine and Informatics, Ehime University Graduate School of Medicine, Shitsukawa, To-o 791-0295, Japan.
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MeSH Terms
Codon, Nonsense / genetics*
DNA / genetics
Glycogen Debranching Enzyme System / genetics*
Glycogen Storage Disease Type III / genetics*
Hypertrophy, Left Ventricular / genetics*
Polymorphism, Single Nucleotide / genetics
Sequence Analysis, DNA
Reg. No./Substance:
0/Codon, Nonsense; 0/Glycogen Debranching Enzyme System; 9007-49-2/DNA

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