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

We report a case of an asymptomatic young subject affected by severe deficiency of Glucose 6-phosphate debydrogenase (GOD) 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. (c) 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.