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|Title:||Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent|
|Authors:||Marie Warny;Birgitte Lausen;Henrik Birgens;Niels Knabe;Jesper Petersen|
|subject:||G6PD deficiency, genotype, point mutation, neonatal hyperbilirubinemia, enzyme assay|
|Abstract:||We report a term male infant born to parents of Danish descent, who on the second day of life developed jaundice peaking at 67 hours and decreasing on applied double-sided phototherapy. In the weeks following, the infant showed signs of ongoing hemolysis. Laboratory tests showed very low glucose-6-phosphate dehydrogenase (G6PD) enzymatic activity, and sequencing of the G6PD gene revealed a previously uncharacterized missense mutation c. 592 C>A (Arg198Ser). Oral DNA from the infant had the same G6PD mutation, suggesting a spontaneous maternal germline mutation as the mutation was not observed in leukocytes from the mother.|
|Appears in Collections:||Journal of pediatric hematology oncology 2015|
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