title: Glucose-6-phosphate dehydrogenase aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia.
abstract: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed. (Blood. 2000;95:1499-1501)
authors.affiliation: Serviço de Hematologia Clínica, Hospital de Crianças Maria Pia, Porto, Portugal. mp354@mail.telepac.pt
authors.forename: E
authors.initials: E
authors.lastname: Costa
authors.forename: J M
authors.initials: JM
authors.lastname: Cabeda
authors.forename: E
authors.initials: E
authors.lastname: Vieira
authors.forename: R
authors.initials: R
authors.lastname: Pinto
authors.forename: S A
authors.initials: SA
authors.lastname: Pereira
authors.forename: L
authors.initials: L
authors.lastname: Ferraz
authors.forename: R
authors.initials: R
authors.lastname: Santos
authors.forename: J
authors.initials: J
authors.lastname: Barbot
mesh_terms: D019943:Amino Acid Substitution; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D014644:Genetic Variation; D018392:Genomic Imprinting; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D017354:Point Mutation
chemical_list: C404962:glucose-6-phosphate dehydrogenase Aveiro; D005954:Glucosephosphate Dehydrogenase