Human Genetics

, Volume 104, Issue 3, pp 275–277

Molecular diagnosis of type 1c glycogen storage disease

  • A. R. Janecke
  • Nils U. Bosshard
  • Ertan Mayatepek
  • Andreas Schulze
  • Richard Gitzelmann
  • Ann Burchell
  • Claus R. Bartram
  • Bart Janssen
Short report

DOI: 10.1007/s004390050948

Cite this article as:
Janecke, A., Bosshard, N., Mayatepek, E. et al. Hum Genet (1999) 104: 275. doi:10.1007/s004390050948

Abstract

Glycogen storage disease type 1 (GSD 1) results from deficiency of the microsomal multicomponent glucose-6-phosphatase system. Malfunction of the catalytic subunit characterises GSD 1a. GSD 1b and GSD 1c are characterised by defective microsomal glucose-6-phosphate or pyrophosphate/phosphate transport, respectively. Recently, a gene encoding a microsomal transporter protein has been found to be mutated in GSD 1b and 1c patients. Here, we report the genomic sequence of the transporter gene and the detection of a homozygous 2-bp deletion (1211delCT) and a homozygous donor splice site mutation (317+1G→T) in two GSD 1c patients, confirming that GSD 1c is allelic to GSD 1b.

Copyright information

© Springer-Verlag Berlin Heidelberg 1999

Authors and Affiliations

  • A. R. Janecke
    • 1
  • Nils U. Bosshard
    • 2
  • Ertan Mayatepek
    • 3
  • Andreas Schulze
    • 3
  • Richard Gitzelmann
    • 2
  • Ann Burchell
    • 4
  • Claus R. Bartram
    • 1
  • Bart Janssen
    • 1
  1. 1.Institute of Human Genetics, University of Heidelberg, GermanyDE
  2. 2.Division of Metabolic and Molecular Diseases, University Children’s Hospital Zürich, SwitzerlandCH
  3. 3.Division of Metabolic Diseases, University Children’s Hospital Heidelberg, GermanyDE
  4. 4.Department of Obstetrics and Gynaecology, Ninewells Hospital and Medical School, Dundee University, ScotlandGB

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