RT Journal Article SR Electronic T1 Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 269 OP 272 DO 10.1136/jmg.35.4.269 VO 35 IS 4 A1 C D Fenske A1 S Jeffery A1 J L Weber A1 R S Houlston A1 J V Leonard A1 P J Lee YR 1998 UL http://jmg.bmj.com/content/35/4/269.abstract AB 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.