A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G→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 amino acid substitution at codon 12. We designated this variant as G6PD Sinnai from the place of birth of the propositus. Hum Mutat 12:72–73, 1998. © 1998 Wiley-Liss, Inc.