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Research Article
Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q.
  1. C D Fenske,
  2. S Jeffery,
  3. J L Weber,
  4. R S Houlston,
  5. J V Leonard,
  6. P J Lee
  1. Medical Genetics Unit, St George's Hospital Medical School, London, UK.

    Abstract

    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.

    https://doi.org/10.1136/jmg.35.4.269

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