Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q

The microsomal glucose-6-phosphatase (G6Pase) complex regulates the final step in glucose production from glycogenolysis and gluconeogenesis. Glycogen storage disease type 1c (GSD-1c) results from deficient activity of the phosphate/ pyrophosphate transporter of this complex and is associated with neutropenia as well as hepatomegaly and hypoglycaemia. Using three affected subjects from a single highly consanguineous family, we have used homozygosity mapping to localise the gene responsible for GSD-1c to a 10.2 cM region on 11q23.3-24.2. The maximum lod score was 3.12. GSD-1c is therefore distinct from GSD-1a, which has been shown previously to be caused by mutations in the G6Pase gene on chromosome 17.