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.
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: Raimundo Antonio G Oliveira; Marilena Oshiro; Mario H Hirata; Rosario D C Hirata; Georgina S Ribeiro; Tereza M D Medeiros; Orlando C de O Barretto Journal: Genet Mol Biol Date: 2009-06-01 Impact factor: 1.771
Authors: Wuelton M Monteiro; Fernando F A Val; André M Siqueira; Gabriel P Franca; Vanderson S Sampaio; Gisely C Melo; Anne C G Almeida; Marcelo A M Brito; Henry M Peixoto; Douglas Fuller; Quique Bassat; Gustavo A S Romero; Oliveira Maria Regina F; Lacerda Marcus Vinícius G Journal: Mem Inst Oswaldo Cruz Date: 2014-08-19 Impact factor: 2.743