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 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 knowl...

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Bibliographic Details
Published in:Clinical biochemistry 2007-08, Vol.40 (12), p.856-858
Main Authors: Minucci, Angelo, Concolino, Paola, Antenucci, Mirca, Santonocito, Concetta, Ameglio, Franco, Zuppi, Cecilia, Giardina, Bruno, Capoluongo, Ettore
Format: Article
Language:English
Subjects:
Adult
Ala44Thr
Base Sequence
Case-Control Studies
DNA Mutational Analysis
Favism
G130A mutation
G6PD Rignano
Glucosephosphate Dehydrogenase - genetics
Glucosephosphate Dehydrogenase Deficiency - genetics
Humans
Male
Molecular Sequence Data
Mutation, Missense - genetics
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Summary: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.
ISSN:0009-9120
1873-2933
DOI:10.1016/j.clinbiochem.2007.03.025