Glycogen storage disease type la (GSD la) is an autosomal recessive disorder caused by deficiency of glucose-6-phosphatase (G6Pase). It is clinically characterized by hypoglycemia, hepatomegaly, short stature, hepatoma and renal insufficiency. Recently the G6Pase gene was isolated and genetic mutations among Caucasian patients have been reported. We studied three Japanese patients with GSD la and identified three novel mutations. Case 1 was a homozygote of Argl70-to-Ter mutation (R170X) in exon 4. An Arg83-to-His mutation (R83H) in exon 2 was identified in case 2 in heterozygous form. Case 3, a product of consanguineous marriage, was a homozygote of Pro257-to-Leu mutation (P257L). None of the three mutations exhibited residual G6Pase activity when expressed in COS7 cells. The results suggested genetic heterogeneity of GSD la in Japanese patients. This is in sharp contrast to a recent report which described remarkable homogeneity of mutations among Japanese patients (AJHG 57:549-555, 1995).
|Number of pages||1|
|Journal||Japanese Journal of Human Genetics|
|Publication status||Published - 1996|
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