title: Molecular diagnosis of type 1c glycogen storage disease.
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.
mesh_terms: D017920:Antiporters; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons; D005796:Genes / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009004:Monosaccharide Transport Proteins; D010770:Phosphotransferases / Q000235:genetics*; D017422:Sequence Analysis, DNA