A new exon 12 mutation in the EPAS1 gene possibly associated with erythrocytosis.

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.

journal_name

Eur J Haematol

authors

Schelker RC,Herr W,Grassinger J

doi

10.1111/ejh.13241

subject

Has Abstract

pub_date

2019-07-01 00:00:00

pages

64-66

issue

1

eissn

0902-4441

issn

1600-0609

journal_volume

103

pub_type

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