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

doi:10.1177/2324709620947256

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 journal › Article

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 language	English (US)
Journal	Journal of Investigative Medicine High Impact Case Reports
Volume	8
DOIs	https://doi.org/10.1177/2324709620947256
State	Published - 2020

Keywords

EGLN1
erythrocytosis
HIF-1
PHD2
polycythemia

ASJC Scopus subject areas

Epidemiology
Safety, Risk, Reliability and Quality
Safety Research

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Cite this

Moore, J. A., Hubbi, M. E., Wang, C., Wang, Y., Luo, W., Hofmann, S., & Rambally, S. (2020). Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene. Journal of Investigative Medicine High Impact Case Reports, 8. https://doi.org/10.1177/2324709620947256

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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.",

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AU - Hubbi, Maimon E.

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AU - Luo, Weibo

AU - Hofmann, Sandra

AU - Rambally, Siayareh

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AB - 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.

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KW - HIF-1

KW - PHD2

KW - polycythemia

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