Key result
Novel EGLN1 mutations linked to isolated erythrocytosis impair PHD2 stability and elevate HIF-1α levels.
Case Report (n=3)
Identification of 3 novel EGLN1 mutations provides further insight into the genetic basis of isolated erythrocytosis via the HIF-1 pathway.
May inform targeted genetic testing in unexplained erythrocytosis; extends EGLN1-HIF pathway evidence but remains hypothesis-generating.
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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Moore et al. (2020) conducted a case report in Isolated erythrocytosis (n=3). EGLN1 gene mutations (P378S, A385T, and G206C) was evaluated on PHD2 protein stability and activity, and HIF-1α protein levels. Three novel missense mutations in the EGLN1 gene (P378S, A385T, and G206C) were identified in 3 patients with isolated erythrocytosis, which impair PHD2 stability and increase HIF-1α levels.
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