Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a

Clinical Genetics
C W LamN M Hjelm

Abstract

Glycogen storage disease type la (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). We analyzed the G6Pase genes of two unrelated Chinese families with GSD1a. DNA sequencing of all five exons and the exon-intron boundaries revealed a G T transversion at nucleotide 727 (727G-->T) in exon 5, which has previously been reported to cause abnormal splicing. In one family, the subject and her affected sister were confirmed to be homozygous for this mutation and their parents to be heterozygotes. In the other family, the proband was identified to be heterozygous for this mutation, and a novel mutation, the 341delG in exon 2, was identified. This mutation alters the reading frame and creates a stop codon TAA 15 codons downstream from the mutation, resulting in a truncated protein. Family studies revealed that the father was heterozygous for the 727G-->T mutation and that the mother was heterozygous for the 341delG mutation. This is the first time that the 727G T mutation has been found in Chinese patients or outside Japan. Since we only tested two GSD1a families and found 727G-->T in both, we believe that this mutation may also be prevalent in our local Chinese population. To i...Continue Reading

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Citations

Aug 25, 2000·Indian Journal of Pediatrics·I N SaltikG Dinler
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Priya S KishnaniMichael S Watson
Mar 11, 2000·European Journal of Biochemistry·G van de WerveA Berteloot
Feb 13, 2001·Molecular Genetics and Metabolism·L J WongT J Chen
May 14, 1999·Trends in Endocrinology and Metabolism : TEM· Yang Chou J, B C Mansfield
Jun 12, 1999·Science·C W Lam

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