Human Genetics

, Volume 103, Issue 4, pp 493–496

Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib

  • K. Ihara
  • Ryuichi Kuromaru
  • Toshiro Hara
Original investigation

DOI: 10.1007/s004390050856

Cite this article as:
Ihara, K., Kuromaru, R. & Hara, T. Hum Genet (1998) 103: 493. doi:10.1007/s004390050856

Abstract

Glycogen storage disease (GSD) type Ib is an autosomal recessive disorder caused by a deficiency in microsomal glucose 6-phosphate (G6P) translocase. A gene mutated in GSD type Ib patients has recently been isolated. We have determined the entire sequence of the human G6P translocase gene by PCR-directed sequencing. The gene spans approximately 5 kb of genomic DNA and contains eight exons. Analysis of DNA from a Japanese patient with GSD type Ib revealed new compound heterozygous mutations; a T to C transition at cDNA position 521 resulting in W118R, and an A to C transversion at the –2 splicing acceptor site of intron 1. Reverse transcription (RT)-PCR from leukocyte RNA of the patient revealed the abnormally spliced transcript. These results further support the suggestion that the gene is causative for GSD Ib and should be useful in the molecular diagnosis of such patients.

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • K. Ihara
    • 1
  • Ryuichi Kuromaru
    • 1
  • Toshiro Hara
    • 1
  1. 1.Department of Pediatrics, Faculty of Medicine, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812–8582, Japan e-mail: k-ihara@mailserver.med.kyushu-u.ac.jp, Tel.: +81 92 6425421, Fax: +81 92 6425435JP

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