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

Standard

Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. / Warny, Marie; Lausen, Birgitte; Birgens, Henrik; Knabe, Niels; Petersen, Jesper.

In: Journal of Pediatric Hematology/Oncology, Vol. 37, No. 8, 11.2015, p. e497-9.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Warny, M, Lausen, B, Birgens, H, Knabe, N & Petersen, J 2015, 'Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent', Journal of Pediatric Hematology/Oncology, vol. 37, no. 8, pp. e497-9. https://doi.org/10.1097/MPH.0000000000000435

APA

Warny, M., Lausen, B., Birgens, H., Knabe, N., & Petersen, J. (2015). Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. Journal of Pediatric Hematology/Oncology, 37(8), e497-9. https://doi.org/10.1097/MPH.0000000000000435

Vancouver

Warny M, Lausen B, Birgens H, Knabe N, Petersen J. Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. Journal of Pediatric Hematology/Oncology. 2015 Nov;37(8):e497-9. https://doi.org/10.1097/MPH.0000000000000435

Author

Warny, Marie ; Lausen, Birgitte ; Birgens, Henrik ; Knabe, Niels ; Petersen, Jesper. / Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. In: Journal of Pediatric Hematology/Oncology. 2015 ; Vol. 37, No. 8. pp. e497-9.

Bibtex

@article{17dbb0652aa849c8bce9e780fc1f1aca,
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.",
keywords = "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",
author = "Marie Warny and Birgitte Lausen and Henrik Birgens and Niels Knabe and Jesper Petersen",
year = "2015",
month = nov,
doi = "10.1097/MPH.0000000000000435",
language = "English",
volume = "37",
pages = "e497--9",
journal = "Journal of Pediatric Hematology/Oncology",
issn = "1077-4114",
publisher = "Lippincott Williams & Wilkins",
number = "8",

}

RIS

TY - JOUR

T1 - Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent

AU - Warny, Marie

AU - Lausen, Birgitte

AU - Birgens, Henrik

AU - Knabe, Niels

AU - Petersen, Jesper

PY - 2015/11

Y1 - 2015/11

N2 - 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.

AB - 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.

KW - Amino Acid Substitution

KW - Denmark

KW - European Continental Ancestry Group

KW - Germ-Line Mutation

KW - Glucosephosphate Dehydrogenase

KW - Glucosephosphate Dehydrogenase Deficiency

KW - Humans

KW - Jaundice, Neonatal

KW - Male

KW - Mutation, Missense

KW - Point Mutation

KW - Sequence Analysis, DNA

U2 - 10.1097/MPH.0000000000000435

DO - 10.1097/MPH.0000000000000435

M3 - Journal article

C2 - 26479991

VL - 37

SP - e497-9

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

SN - 1077-4114

IS - 8

ER -

ID: 162754253