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.
Fenske
C D
CD
Medical Genetics Unit, St George's Hospital Medical School, London, UK.
Jeffery
S
S
Weber
J L
JL
Houlston
R S
RS
Leonard
J V
JV
Lee
P J
PJ
D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
D005952:Glucose-6-Phosphatase