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 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.
Minucci
Angelo
A
Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry, Catholic University, Largo F Vito 1, 00168, Rome, Italy.
Concolino
Paola
P
Antenucci
Mirca
M
Santonocito
Concetta
C
Ameglio
Franco
F
Zuppi
Cecilia
C
Giardina
Bruno
B
Capoluongo
Ettore
E
D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*
D005954:Glucosephosphate Dehydrogenase