A new exon 12 mutation in the EPAS1 gene possibly associated with erythrocytosis.
Eur J Haematol
; 103(1): 64-66, 2019 Jul.
Article
en En
| MEDLINE
| ID: mdl-31038790
ABSTRACT
In secondary erythrocytosis, the elevated red cell count is powered by factors outside the erythroid compartment, for instance by raised erythropoietin (EPO) synthesis based on congenital defects of the oxygen-sensing pathway. The principal transcriptional regulator of EPO synthesis is endothelial PAS domain-containing protein 1 (EPAS 1). We present here the first report of a patient with erythrocytosis involving a mutation of amino acid 525 in EPAS1. The p.Asp525His mutation affects a residue that is farthermost from primary functional site Pro-531 of any of the erythrocytosis-related mutations that have been identified up to now.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Policitemia
/
Exones
/
Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico
/
Mutación
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
Idioma:
En
Revista:
Eur J Haematol
Asunto de la revista:
HEMATOLOGIA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Alemania