title: A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A- (68Val>Met, 126Asn>Asp).
abstract: We report the second documented observation of a rare class-III variant, we named G6PD Pyrgos, [c.383 T>G, p.128Leu>Arg] found in a Greek family. A 3-dimensional structure model for the enzyme shows that the region modified by the substitution is identical to that modified in G6PD A(-) (68Val>Met, 126Asn>Asp), suggesting a common underlying pathophysiological mechanism. Observation of this mutation in different Mediterranean regions suggests that it might be more widespread that initially supposed and, in the absence of molecular characterization, could be confused with other frequent variants.
authors.affiliation: INSERM, U955, Créteil, F-94010, France. Kamran.Moradkhani@inserm.fr
authors.forename: Kamran
authors.initials: K
authors.lastname: Moradkhani
authors.forename: Michel
authors.initials: M
authors.lastname: Bahuau
authors.forename: Claude
authors.initials: C
authors.lastname: Préhu
authors.forename: Natacha
authors.initials: N
authors.lastname: Martin
authors.forename: Catherine
authors.initials: C
authors.lastname: Bimet
authors.forename: Frederic
authors.initials: F
authors.lastname: Galactéros
authors.forename: Henri
authors.initials: H
authors.lastname: Wajcman
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D006115:Greece; D006801:Humans; D008297:Male; D009154:Mutation; D011487:Protein Conformation
chemical_list: D005954:Glucosephosphate Dehydrogenase; C482910:glucose-6-phosphate dehydrogenase A-