Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent.
J Pediatr Hematol Oncol
; 37(8): e497-9, 2015 Nov.
Article
en En
| MEDLINE
| ID: mdl-26479991
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutación Puntual
/
Mutación Missense
/
Glucosafosfato Deshidrogenasa
/
Deficiencia de Glucosafosfato Deshidrogenasa
Tipo de estudio:
Diagnostic_studies
/
Etiology_studies
Límite:
Humans
/
Male
País/Región como asunto:
Europa
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article
País de afiliación:
Dinamarca
Pais de publicación:
Estados Unidos