Please use this identifier to cite or link to this item:
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
Year: 2015
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

Files in This Item:
File Description SizeFormat 
e497.pdf141.75 kBAdobe PDFThumbnail
Download    Request a copy

Items in HannanDL are protected by copyright, with all rights reserved, unless otherwise indicated.