title: Glucose-6-phosphate dehydrogenase Buenos Aires: a novel de novo missense mutation associated with severe enzyme deficiency.
abstract: OBJECTIVE
  : Glucose 6-phosphate dehydrogenase (G6PD) catalyzes the first committed steps in the pentose phosphate pathway: the generation of NADPH by this enzyme is essential for protection against oxidative stress. The human enzyme is in a dimer<-->tetramer equilibrium and its stability depends on NADP(+) concentration. Herein, we report a case of a symptomatic baby affected by severe deficiency of G6PD activity due to a novel de novo genetic mutation (g1465C>T) in the thirteenth exon of its gene.
  
  
  METHODS
  : Clinical, biochemical and genetic evaluations of the affected baby and his mother were performed.
  
  
  RESULTS
  : We found the g1465C>T novel mutation, in the thirteenth exon of G6PD gene (named "G6PD Buenos Aires variant"). This g1465C>T mutation produce a P489S substitution at protein level. The P489S mutation was absent in his mother, suggesting that G6PD Buenos Aires resulted from a de novo mutation.
  
  
  CONCLUSIONS
  : The absence of mosaicism in the baby's DNA (from saliva and blood samples) suggests that a de novo mutation event may occur in the very early stages in embryogenesis or in the mother's germ cell lines.
authors: Laboratory of Clinical Molecular Biology Institute of Biochemistry and Clinical Biochemistry, Catholic University of Rome, Italy.
authors: Angelo
authors: A
authors: Minucci
authors: Paola
authors: P
authors: Concolino
authors: Francesca
authors: F
authors: Vendittelli
authors: Bruno
authors: B
authors: Giardina
authors: Cecilia
authors: C
authors: Zuppi
authors: Ettore
authors: E
authors: Capoluongo
mesh_terms: D001483:Base Sequence; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D012720:Severity of Illness Index
chemical_list: D005954:Glucosephosphate Dehydrogenase