Molecular analysis of glycogen storage disease type Ib: Identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11

Shigeo Kure, Yoichi Suzuki, Yoichi Matsubara, Osamu Sakamoto, Haruo Shintaku, Gen Isshiki, Chiharu Hoshida, Isho Izumi, Nobuo Sakura, Kuniaki Narisawa

Research output: Contribution to journalArticlepeer-review

42 Citations (Scopus)

Abstract

Glycogen storage disease type Ib (GSD-Ib) is an inborn error of metabolism with autosomal recessive inheritance, caused by defects in microsomal transport of glucose-6-phosphate. Recently, Gerin et al isolated a human cDNA encoding a putative transporter homologous to bacterial transporters of hexose-6-phosphate, and identified two mutations in its gene in two patients with GSD-Ib. Independently, a linkage analysis mapped the GSD-Ib gene on chromosome 11q23. It remains to be elucidated whether the two genes are identical or GSD-Ib is genetically heterogeneous. We first mapped the transporter gene on chromosome 11 by using a DNA panel of human/hamster hybridoma cells. The result suggested that the GSD-Ib genes identified by the two distinct approaches may be identical and GSD-Ib was allelic. We then studied four unrelated Japanese families with GSD-Ib, and found three novel mutations: a four-base deletion/two-base insertion, a point mutation within a consensus splicing donor site, and a missense mutation (W118R). The W118R mutation was found in 4 out of 8 mutant alleles, suggesting that it is prevalent among Japanese patients.

Original languageEnglish
Pages (from-to)426-431
Number of pages6
JournalBiochemical and biophysical research communications
Volume248
Issue number2
DOIs
Publication statusPublished - 1998 Jul 20

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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