Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene

Joseph A. Moore, Maimon E. Hubbi, Chenliang Wang, Yingfei Wang, Weibo Luo, Sandra Hofmann, Siayareh Rambally

Research output: Contribution to journalArticle

Abstract

Hypoxia-inducible factor-1 (HIF-1) is a key regulator of erythropoiesis. In this article, we report 3 novel mutations, P378S, A385T, and G206C, on the EGLN1 gene encoding the negative HIF-1α regulator prolyl hydroxylase domain-2 (PHD2) in 3 patients with isolated erythrocytosis. These mutations impair PHD2 protein stability and partially reduce PHD2 activity, leading to increased HIF-1α protein levels in cultured cells.

Original languageEnglish (US)
JournalJournal of Investigative Medicine High Impact Case Reports
Volume8
DOIs
StatePublished - 2020

Keywords

  • EGLN1
  • erythrocytosis
  • HIF-1
  • PHD2
  • polycythemia

ASJC Scopus subject areas

  • Epidemiology
  • Safety, Risk, Reliability and Quality
  • Safety Research

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