Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients

Hum Mutat. 2000 Nov;16(5):444. doi: 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F.

Abstract

Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • France / epidemiology
  • Genetic Heterogeneity*
  • Glucose-6-Phosphatase / genetics
  • Glucose-6-Phosphatase / metabolism
  • Glycogen Storage Disease Type I / enzymology
  • Glycogen Storage Disease Type I / epidemiology
  • Glycogen Storage Disease Type I / genetics*
  • Humans
  • Liver / enzymology
  • Mutation / genetics
  • Prevalence
  • Sequence Deletion / genetics

Substances

  • Glucose-6-Phosphatase