Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene

Mol Genet Metab. 2006 May;88(1):96-9. doi: 10.1016/j.ymgme.2005.12.011. Epub 2006 Feb 21.

Abstract

A new splicing site substitution (c.985-1G>C) in the glucose-6-phosphate translocase (G6PT1) gene was detected in both alleles of an Argentinean patient. This mutation was associated with an unusual GSD-Ib phenotype without neutropenia. A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • Female
  • Glucose-6-Phosphate / metabolism*
  • Glycogen Storage Disease Type I / genetics*
  • Humans
  • Membrane Transport Proteins / genetics*
  • Molecular Sequence Data
  • Neutropenia / genetics
  • Point Mutation
  • RNA Splice Sites / genetics

Substances

  • Membrane Transport Proteins
  • RNA Splice Sites
  • Glucose-6-Phosphate