Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent

J Pediatr Hematol Oncol. 2015 Nov;37(8):e497-9. doi: 10.1097/MPH.0000000000000435.

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.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Substitution
  • Denmark
  • Germ-Line Mutation
  • Glucosephosphate Dehydrogenase / chemistry
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Glucosephosphate Dehydrogenase Deficiency / diagnosis
  • Glucosephosphate Dehydrogenase Deficiency / ethnology
  • Glucosephosphate Dehydrogenase Deficiency / genetics*
  • Humans
  • Jaundice, Neonatal / etiology
  • Male
  • Mutation, Missense*
  • Point Mutation*
  • Sequence Analysis, DNA
  • White People / genetics

Substances

  • glucose-6-phosphate dehydrogenase Herlev
  • Glucosephosphate Dehydrogenase