Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent
Research output: Contribution to journal › Journal article › Research › peer-review
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.
| Original language | English |
|---|---|
| Journal | Journal of Pediatric Hematology/Oncology |
| Volume | 37 |
| Issue number | 8 |
| Pages (from-to) | e497-9 |
| Number of pages | 3 |
| ISSN | 1077-4114 |
| DOIs | |
| Publication status | Published - Nov 2015 |
- Amino Acid Substitution, Denmark, European Continental Ancestry Group, Germ-Line Mutation, Glucosephosphate Dehydrogenase, Glucosephosphate Dehydrogenase Deficiency, Humans, Jaundice, Neonatal, Male, Mutation, Missense, Point Mutation, Sequence Analysis, DNA
Research areas
ID: 162754253