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 › peer-review

1 Scopus citations

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
HIF-1
PHD2
erythrocytosis
polycythemia

ASJC Scopus subject areas

Epidemiology
Safety, Risk, Reliability and Quality
Safety Research

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title = "Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene",

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.",

keywords = "EGLN1, HIF-1, PHD2, erythrocytosis, polycythemia",

author = "Moore, {Joseph A.} and Hubbi, {Maimon E.} and Chenliang Wang and Yingfei Wang and Weibo Luo and Sandra Hofmann and Siayareh Rambally",

note = "Publisher Copyright: {\textcopyright} 2020 American Federation for Medical Research.",

year = "2020",

doi = "10.1177/2324709620947256",

language = "English (US)",

volume = "8",

journal = "Journal of Investigative Medicine High Impact Case Reports",

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TY - JOUR

T1 - Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 Gene

AU - Moore, Joseph A.

AU - Hubbi, Maimon E.

AU - Wang, Chenliang

AU - Wang, Yingfei

AU - Luo, Weibo

AU - Hofmann, Sandra

AU - Rambally, Siayareh

PY - 2020

Y1 - 2020

N2 - 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.

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.

KW - EGLN1

KW - HIF-1

KW - PHD2

KW - erythrocytosis

KW - polycythemia

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DO - 10.1177/2324709620947256

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VL - 8

JO - Journal of Investigative Medicine High Impact Case Reports

JF - Journal of Investigative Medicine High Impact Case Reports

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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