title: 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.
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.
authors.affiliation: Department of Endocrinology and Metabolism, Ioranomon Hospital, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Okubo
authors.forename: Y
authors.initials: Y
authors.lastname: Aoyama
authors.forename: M
authors.initials: M
authors.lastname: Kishimoto
authors.forename: Y
authors.initials: Y
authors.lastname: Shishiba
authors.forename: T
authors.initials: T
authors.lastname: Murase
mesh_terms: D000328:Adult; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D005819:Genetic Markers; D005820:Genetic Testing; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D005952:Glucose-6-Phosphatase