ArticleHaematologica2013
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
Article in Haematologica, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- Immune drivers of venous thrombosis: orchestrating initiation, formation, and resolution within the hypoxic microenvironment.Frontiers in immunology · 2026Review
- [Familial erythrocytosis type 2 due to VHL germline mutations: a case report and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Review
- Case Report: Importance of high-throughput genetic investigations in the differential diagnosis of unexplained erythrocytosis.Pathology oncology research : POR · 2025Article
- Oxygen-sensing pathways and the pulmonary circulation.The Journal of physiology · 2024Review
- Ethnic sensitivity analyses of pharmacokinetics, efficacy and safety in polycythemia vera treatment with ropeginterferon alfa-2b.Frontiers in pharmacology · 2024Article
- Targeting Features of Curaxin CBL0137 on Hematological Malignancies In Vitro and In Vivo.Biomedicines · 2023Article
- Review
- Review
- rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics.Pathology oncology research : POR · 2021Article
- Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit.Haematologica · 2020Article
- Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.Blood reviews · 2019Review
- Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia.The Journal of clinical investigation · 2018Article
- A novel splicing site IRP1 somatic mutation in a patient with pheochromocytoma and JAK2BMC cancer · 2018Article
- Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Haematologica · 2016Article
- Inactivation of the tumor suppressor gene von Hippel-Lindau (VHL) in granulocytes contributes to development of liver hemangiomas in a mouse model.BMC cancer · 2016Article
- VHL, the story of a tumour suppressor gene.Nature reviews. Cancer · 2015Review
- An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.Human molecular genetics · 2014Article
- Hematological, hepatic, and retinal phenotypes in mice deficient for prolyl hydroxylase domain proteins in the liver.The American journal of pathology · 2014Article
- Article
- Hypoxia-inducible factors enhance the effector responses of CD8(+) T cells to persistent antigen.Nature immunology · 2013Article
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Authors and funding
11 authors at 7 institutions in 4 countries.
Funding
Abstract
Mutations of VHL (a negative regulator of hypoxia-inducible factors) have position-dependent distinct cancer phenotypes. Only two known inherited homozygous VHL mutations exist and they cause polycythemia: Chuvash R200W and Croatian H191D. We report a second polycythemic Croatian H191D homozygote distantly related to the first propositus. Three generations of both families were genotyped for analysis of shared ancestry. Biochemical and molecular tests were performed to better define their phenotypes, with an emphasis on a comparison with Chuvash polycythemia. The VHL H191D mutation did not segregate in the family defined by the known common ancestors of the two subjects, suggesting a high prevalence in Croatians, but haplotype analysis indicated an undocumented common ancestor ∼six generations ago as the founder of this mutation. We show that erythropoietin levels in homozygous VHL H191D individuals are higher than in VHL R200W patients of similar ages, and their native erythroid progenitors, unlike Chuvash R200W, are not hypersensitive to erythropoietin. This observation contrasts with a report suggesting that polycythemia in VHL R200W and H191D homozygotes is due to the loss of JAK2 regulation from VHL R200W and H191D binding to SOCS1. In conclusion, our studies further define the hematologic phenotype of VHL H191D and provide additional evidence for phenotypic heterogeneity associated with the positional effects of VHL mutations.
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