Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the EGLN1 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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Detalles Bibliográficos
Autores principales: Moore, Joseph A., Hubbi, Maimon E., Wang, Chenliang, Wang, Yingfei, Luo, Weibo, Hofmann, Sandra, Rambally, Siayareh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543148/
https://www.ncbi.nlm.nih.gov/pubmed/32755251
http://dx.doi.org/10.1177/2324709620947256
Descripción
Sumario: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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