title: Description of a novel missense mutation of glucose-6-phosphate dehydrogenase gene associated with asymptomatic high enzyme deficiency.
abstract: 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.
authors.affiliation: Laboratory of Clinical Molecular Biology, Department of Biochemistry and Clinical Biochemistry, Catholic University, Largo F Vito 1, 00168, Rome, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.forename: Mirca
authors.initials: M
authors.lastname: Antenucci
authors.forename: Concetta
authors.initials: C
authors.lastname: Santonocito
authors.forename: Franco
authors.initials: F
authors.lastname: Ameglio
authors.forename: Cecilia
authors.initials: C
authors.lastname: Zuppi
authors.forename: Bruno
authors.initials: B
authors.lastname: Giardina
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: 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*
chemical_list: D005954:Glucosephosphate Dehydrogenase