Identification of a point mutation (G727T) in the glucose‐6‐phosphatase gene in Japanese patients with glycogen storage disease type 1a, and carrier screening in healthy volunteers
- 1 March 1997
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 51 (3) , 179-183
- https://doi.org/10.1111/j.1399-0004.1997.tb02449.x
Abstract
Glycogen storage disease type 1a (GSD 1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose‐6‐phosphatase (G6Pase). We analyzed the G6Pase gene of two unrelated Japanese families with GSD 1a. DNA sequencing of all five exons and exon‐intron junctions revealed a G‐to‐T transversion at nucleotide 727 (G727T) in exon 5, which has been previously reported to cause abnormal splicing. Family studies using mismatch PCR showed that three patients were homozygous for the G727T mutation, while the parents were heterozygous. To investigate allele frequencies, we screened 216 Japanese healthy volunteers and found one asymptomatic carrier. Our findings suggest that the G727T mutation may be prevalent in Japan.Keywords
This publication has 10 references indexed in Scilit:
- A Novel Donor Splice Site Mutation in the Glycogen Debranching Enzyme Gene Is Associated with Glycogen Storage Disease Type IIIBiochemical and Biophysical Research Communications, 1996
- Glucose–6–phosphatase dependent substrate transport in the glycogen storage disease type–1a mouseNature Genetics, 1996
- Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type laHuman Molecular Genetics, 1995
- Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.Journal of Clinical Investigation, 1995
- Renal Lesion of Type la Glycogen Storage Disease: The Glomerular Size and Renal Localization of ApolipoproteinNephron, 1995
- Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim ArabJournal of Inherited Metabolic Disease, 1995
- Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.Journal of Clinical Investigation, 1994
- Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1aScience, 1993
- The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequencesHuman Genetics, 1992
- Renal Disease in Type I Glycogen Storage DiseaseNew England Journal of Medicine, 1988