Molecular diagnosis of type 1c glycogen storage disease |
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| Authors: | A R Janecke Nils U Bosshard Ertan Mayatepek Andreas Schulze Richard Gitzelmann Ann Burchell Claus R Bartram Bart Janssen |
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| Institution: | (1) Institute of Human Genetics, University of Heidelberg, Germany, DE;(2) Division of Metabolic and Molecular Diseases, University Children’s Hospital Zürich, Switzerland, CH;(3) Division of Metabolic Diseases, University Children’s Hospital Heidelberg, Germany, DE;(4) Department of Obstetrics and Gynaecology, Ninewells Hospital and Medical School, Dundee University, Scotland, GB |
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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.
Received: 16 October 1998 / Accepted: 11 January 1998 |
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