Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome

Pediatr Res. 2000 Nov;48(5):586-9. doi: 10.1203/00006450-200011000-00005.

Abstract

Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder manifesting hepatorenal glycogen accumulation, Fanconi nephropathy, and impaired utilization of glucose and galactose. Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS. We performed molecular analysis on three Japanese patients and found four novel mutations: a splice-site mutation (IVS2-2A>G), a nonsense mutation (Q287X), and two missense mutations (L389P and V423E). Heterozygotes of L389P or V423E mutation from the patients' families showed renal glucosuria. These data suggested that GLUT2 gene defects may be a cause of renal glucosuria.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Base Sequence
  • Child, Preschool
  • Codon, Nonsense
  • DNA Mutational Analysis
  • DNA Primers / genetics
  • Fanconi Syndrome / genetics*
  • Female
  • Glucose Transporter Type 2
  • Glycogen Storage Disease / genetics*
  • Glycosuria, Renal / genetics
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Japan
  • Male
  • Monosaccharide Transport Proteins / genetics*
  • Mutation*
  • Mutation, Missense
  • Pedigree
  • Point Mutation
  • RNA Splicing / genetics

Substances

  • Codon, Nonsense
  • DNA Primers
  • Glucose Transporter Type 2
  • Monosaccharide Transport Proteins