title: Molecular characterization of G6PD deficiency in Southern Italy: heterogeneity, correlation genotype-phenotype and description of a new variant (G6PD Neapolis).
abstract: We report on the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Southern Italy (Campania region). Thirty-one unrelated G6PD-deficient males were analysed at DNA level for the presence of G6PD gene mutations. Nine different G6PD variants were identified, eight of which have already been described (Mediterranean, Seattle, two different A-, Santamaria, Cassano, Union and Cosenza). G6PD Mediterranean, Santamaria, A- and Union were associated with haemolytic episodes. G6PD Seattle, which is polymorphic in several populations, Cassano and Cosenza appeared to be asymptomatic. A new variant (G6PD Neapolis) is reported here. The 467(Pro-->Arg) substitution responsible for G6PD Neapolis is discussed in the light of the current 3D model of human G6PD and in comparison with other natural mutations which occur in the proximity of residue 467.
authors.affiliation: Divisione di Ematologia Università degli Studi Federico II, Naples, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Alfinito
authors.forename: A
authors.initials: A
authors.lastname: Cimmino
authors.forename: F
authors.initials: F
authors.lastname: Ferraro
authors.forename: M V
authors.initials: MV
authors.lastname: Cubellis
authors.forename: L
authors.initials: L
authors.lastname: Vitagliano
authors.forename: M
authors.initials: M
authors.lastname: Francese
authors.forename: A
authors.initials: A
authors.lastname: Zagari
authors.forename: B
authors.initials: B
authors.lastname: Rotoli
authors.forename: S
authors.initials: S
authors.lastname: Filosa
authors.forename: G
authors.initials: G
authors.lastname: Martini
mesh_terms: D018740:Genetic Heterogeneity; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D005954:Glucosephosphate Dehydrogenase