A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene

作者：Ogimoto Akiyoshi^*; Okubo Minoru; Okayama Hideki; Shin Yoon S; Endo Yoriko; Ebara Tetsu; Inoue Katsuji; Ohtsuka Tomoaki; Tahara Hideki; Murase Toshio; Higaki Jistuo

来源：Circulation Journal, 2007, 71(10): 1653-1656.

DOI：10.1253/circj.71.1653

• cardiomyopathy
• glycogen storage disease type III
• hepatomegaly
• hypoglycemia
• left ventricular hypertrophy
• nonsense mutation

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 Ma (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 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.

• 出版日期2007-10
• 单位河北医科大学