Dataset Information

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

ABSTRACT: Erythrocytosis can arise from deregulation of the erythropoietin (Epo) axis resulting from defects in the oxygen-sensing pathway. Epo synthesis is controlled by the hypoxia inducible factor (HIF) complex, composed of an alpha and a beta subunit. There are 2 main alpha subunits, HIF-1 alpha and HIF-2 alpha. Recently, a HIF-2 alpha Gly537Trp mutation was identified in a family with erythrocytosis. This raises the possibility of HIF2A mutations being associated with other cases of erythrocytosis. We now report a subsequent analysis of HIF2A in a cohort of 75 erythrocytosis patients and identify 4 additional patients with novel heterozygous Met535Val and Gly537Arg mutations. All patients presented at a young age with elevated serum Epo. Mutations at Gly-537 account for 4 of 5 HIF2A mutations associated with erythrocytosis. These findings support the importance of HIF-2 alpha in human Epo regulation and warrant investigation of HIF2A in patients with unexplained erythrocytosis.

SUBMITTER: Percy MJ

PROVIDER: S-EPMC2396730 | biostudies-literature | 2008 Jun

REPOSITORIES: biostudies-literature

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Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

Percy Melanie J MJ Beer Philip A PA Campbell Gavin G Dekker Ad W AW Green Anthony R AR Oscier David D Rainey M Glenn MG van Wijk Richard R Wood Marion M Lappin Terence R J TR McMullin Mary Frances MF Lee Frank S FS

Blood 20080331 11

Erythrocytosis can arise from deregulation of the erythropoietin (Epo) axis resulting from defects in the oxygen-sensing pathway. Epo synthesis is controlled by the hypoxia inducible factor (HIF) complex, composed of an alpha and a beta subunit. There are 2 main alpha subunits, HIF-1 alpha and HIF-2 alpha. Recently, a HIF-2 alpha Gly537Trp mutation was identified in a family with erythrocytosis. This raises the possibility of HIF2A mutations being associated with other cases of erythrocytosis. W ...[more]

PMID: 18378852

Dataset Information

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

Publications

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.

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