title: Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent.
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.
authors.affiliation: Departments of *Hematology ‡Pediatrics, Herlev Hospital, Copenhagen University Hospital, Herlev †Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
authors.forename: Marie
authors.initials: M
authors.lastname: Warny
authors.forename: Birgitte
authors.initials: B
authors.lastname: Lausen
authors.forename: Henrik
authors.initials: H
authors.lastname: Birgens
authors.forename: Niels
authors.initials: N
authors.lastname: Knabe
authors.forename: Jesper
authors.initials: J
authors.lastname: Petersen
mesh_terms: D019943:Amino Acid Substitution; D003718:Denmark; D018095:Germ-Line Mutation; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007567:Jaundice, Neonatal / Q000209:etiology; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics
chemical_list: C000604597:glucose-6-phosphate dehydrogenase Herlev; D005954:Glucosephosphate Dehydrogenase