title: Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.
abstract: We screened 423 patients referred to our laboratory after hemolysis triggered by fava beans ingestion, neonatal jaundice or drug hemolysis. Others were asymptomatic but belonged to a family with a history of G6PD deficiency. The determination of enzymatic activity using spectrophotometric method, revealed 293 deficient (143 males and 150 females). The molecular analysis was performed by a combination of PCR-RFLP and DNA sequencing to characterize the mutations causing G6PD deficiency. 14 different genotypes have been identified : G6PD A(-) (376A>G;202G>A) (46.07%) and G6PD Med (33.10%) were the most common variants followed by G6PD Santamaria (5.80%), G6PD Kaiping (3.75%), the association [c.1311T and IVS11 93c] (3.75%), G6PD Chatham (2.04%), G6PD Aures (1.70%), G6PD A(-) Betica (0.68%), the association [ 376G;c.1311T;IVS11 93c] (0.68%), G6PD Malaga, G6PD Canton and G6PD Abeno respectively (0.34%). Two novel missense mutations were identified (c.920A>C: p.307Gln>Pro and c.968T>C: p.323 Leu>Pro). We designated these two class III variants as G6PD Tunis and G6PD Nefza. A mechanism which could account for the defective activity is discussed.
authors.affiliation: Laboratoire d'hématologie moléculaire et cellulaire, Institut Pasteur de Tunis, 13 place Pasteur, Tunis-Le-Belvédère, Tunisia. ikbel.benmansour@planet.tn
authors.forename: Ikbel
authors.initials: I
authors.lastname: Benmansour
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
authors.forename: Imen
authors.initials: I
authors.lastname: Moumni
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
authors.forename: Raouf
authors.initials: R
authors.lastname: Hafsia
authors.forename: Abderraouf
authors.initials: A
authors.lastname: Ghanem
authors.forename: Salem
authors.initials: S
authors.lastname: Abbès
authors.forename: Claude
authors.initials: C
authors.lastname: Préhu
mesh_terms: D000293:Adolescent; D000328:Adult; D005091:Exons / Q000235:genetics; D005236:Favism / Q000209:etiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000209:etiology; D008297:Male; D008708:Methemoglobinemia / Q000209:etiology; D008875:Middle Aged; D008958:Models, Molecular; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017433:Protein Structure, Secondary; D017422:Sequence Analysis, DNA; D014416:Tunisia / Q000453:epidemiology
chemical_list: D005954:Glucosephosphate Dehydrogenase