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Molecular diagnosis of type 1c glycogen storage disease

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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.

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Authors and Affiliations

  1. Institute of Human Genetics, University of Heidelberg, Germany, , , , , , DE

    A. R. Janecke, Claus R. Bartram & Bart Janssen

  2. Division of Metabolic and Molecular Diseases, University Children’s Hospital Zürich, Switzerland, , , , , , CH

    Nils U. Bosshard & Richard Gitzelmann

  3. Division of Metabolic Diseases, University Children’s Hospital Heidelberg, Germany, , , , , , DE

    Ertan Mayatepek & Andreas Schulze

  4. Department of Obstetrics and Gynaecology, Ninewells Hospital and Medical School, Dundee University, Scotland, , , , , , GB

    Ann Burchell

Authors
  1. A. R. Janecke
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  2. Nils U. Bosshard
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  3. Ertan Mayatepek
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  4. Andreas Schulze
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  5. Richard Gitzelmann
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  6. Ann Burchell
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  7. Claus R. Bartram
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  8. Bart Janssen
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Additional information

Received: 16 October 1998 / Accepted: 11 January 1998

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Janecke, A., Bosshard, N., Mayatepek, E. et al. Molecular diagnosis of type 1c glycogen storage disease. Hum Genet 104, 275–277 (1999). https://doi.org/10.1007/s004390050948

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  • DOI: https://doi.org/10.1007/s004390050948

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