Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency

Clin Biochem. 2007 Aug;40(12):856-8. doi: 10.1016/j.clinbiochem.2007.03.025. Epub 2007 Apr 20.

Abstract

We report a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate dehydrogenase (G6PD) activity. A novel genetic mutation (G130A) in the third exon was found. We named this novel mutation the "G6PD RIGNANO variant". These findings may contribute to a better knowledge of molecular epidemiology of the G6PD mutation and may represent an additional variant to be studied for a deep comprehension of in vivo compensation mechanisms of G6PD deficiency.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Case-Control Studies
  • DNA Mutational Analysis
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense / genetics*

Substances

  • Glucosephosphate Dehydrogenase