Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene

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 impa...

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Bibliographic Details
Published in:JIM - high impact case reports 2020-07, Vol.8
Main Authors: Joseph A. Moore MD, Maimon E. Hubbi MD, PhD, Chenliang Wang PhD, Yingfei Wang PhD, Weibo Luo PhD, Sandra Hofmann MD, PhD, Siayareh Rambally MD
Format: Article
Language:English
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Summary: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.
ISSN:2324-7096
DOI:10.1177/2324709620947256