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A new exon 12 mutation in the EPAS1 gene possibly associated with erythrocytosis
Roland Christian Schelker1,2, Wolfgang Herr1, Jochen Grassinger1,2
1Department of Internal Medicine III, Hematology & Oncology, University Hospital of Regensburg, Regensburg, Germany.
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.
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