Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases

J Inherit Metab Dis. 2004;27(5):621-3. doi: 10.1023/b:boli.0000042987.43395.c6.

Abstract

Eleven patients with glycogen storage disease type Ib (GSD Ib) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 21/22 mutant alleles comprising 12 different mutations in the glucose-6-phosphate translocase gene (G6PT). Among these, one is a novel mutation of G6PT: 855T>C (L229P).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles*
  • Antiporters
  • Child
  • Child, Preschool
  • DNA Restriction Enzymes / pharmacology
  • Exons
  • France
  • Genetic Variation
  • Glycogen Storage Disease Type I / diagnosis*
  • Glycogen Storage Disease Type I / genetics*
  • Humans
  • Introns
  • Monosaccharide Transport Proteins
  • Mutation
  • Phosphotransferases / genetics*
  • Polymorphism, Single-Stranded Conformational
  • Sequence Analysis, DNA

Substances

  • Antiporters
  • Monosaccharide Transport Proteins
  • SLC37A4 protein, human
  • glucose 6-phosphate(transporter)
  • Phosphotransferases
  • DNA Restriction Enzymes