title: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen).
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-chromosome-linked hereditary disorder. Clinically, patients with G6PD deficiency often present with drug- or food-induced hemolytic crises or neonatal jaundice. G6PD is involved in the generation of NADPH and reduced glutathione. In contrast to American, Mediterranean, and African ancestries, only few variants are known from Middle and Northern Europe. We describe the molecular characterization of a distinct variant from the northwestern area of Germany, G6PD Aachen. The sequence of the G6PD gene from three afflicted males was found to be hemizygous at cDNA residue 1089 for a C-->G mutation with a predicted amino acid change of Asn363Lys. The 1089 C-->G point mutation is unique, but produces the identical amino acid change found in a Mexican variant of G6PD deficiency, G6PD Loma Linda. This G6PD-deficient variant is caused by a 1089 C-->A mutation. The 363-amino-acid replacement is located outside a known mutation cluster region between amino acid residues 380 and 450, but may disrupt or weaken dimer interactions of G6PD enzyme subunits.
authors.affiliation: Department of Internal Medicine 4, University Hospital of Aachen, Federal Republic of Germany.
authors.forename: T
authors.initials: T
authors.lastname: Efferth
authors.forename: R
authors.initials: R
authors.lastname: Osieka
authors.forename: E
authors.initials: E
authors.lastname: Beutler
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D001665:Binding Sites; D004252:DNA Mutational Analysis; D019281:Dimerization; D014644:Genetic Variation; D005858:Germany; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000737:chemistry* / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007700:Kinetics; D008297:Male; D017354:Point Mutation
chemical_list: D005954:Glucosephosphate Dehydrogenase