A new glucose 6 phosphate dehydrogenase variant G6PD Sinnai (34 G-->T). Mutations in brief no. 156. Online

Hum Mutat. 1998;12(1):72-3. doi: 10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.0.CO;2-T.

Abstract

In this paper we report a male infant heterozygous for thalassemia with a mild glucose 6 phosphate dehydrogenase deficiency. The molecular basis of this new Class III G6PD variant is a G-->T mutation at nucleotide 34 in the exon 2, which predicts a Val-->Leu aminoacid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus.

Publication types

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

MeSH terms

  • Glucosephosphate Dehydrogenase / genetics
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Infant
  • Isoenzymes / genetics
  • Male
  • Mutation / genetics
  • Thalassemia / enzymology
  • Thalassemia / genetics

Substances

  • Isoenzymes
  • Glucosephosphate Dehydrogenase