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Glucose‐6‐phosphatase gene (727G→T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type la
Author(s) -
Lam ChingWan,
But WaiMan,
Shek ChiChung,
Tong SuiFan,
Chan YuenShan,
Choy KwongWai,
Tse WingYee,
Pang ChiPui,
Hjelm Nils Magnus
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02674.x
Subject(s) - exon , genetics , mutation , biology , transversion , proband , compound heterozygosity , population , gene , medicine , environmental health
Glycogen storage disease type la (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose‐6‐phosphatase (GóPase). We analyzed the GóPase genes of two unrelated Chinese families with GSD1a. DNA sequencing of all five exons and the exonintron 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 GSDla families and found 727G→T in both, we believe that this mutation may also be prevalent in our local Chinese population. To investigate allele frequencies, we screened 385 Chinese healthy volunteers and found two asymptomatic carriers. Our findings suggest that the 727G → T mutation is indeed prevalent in Hong Kong.