ArticleBlood2013
Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.
Article in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 40 citations in OpenAlex.
- CDK6/4 inactivates BAP1 deubiquitinase destabilizing VHL to promote metastatic colonization in liver.Molecular cancer · 2026Article
- Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.American journal of human genetics · 2025Article
- [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
- Renal lymphangiomatosis: literature analysis on research progress and presentation of four cases.Quantitative imaging in medicine and surgery · 2023Article
- Review
- VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.Frontiers in endocrinology · 2022Article
- Pathological Features of Tumors of the Nervous System in Hereditary Cancer Predisposition Syndromes: A Review.Neurosurgery · 2021Review
- 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
- VHL, the story of a tumour suppressor gene.Nature reviews. Cancer · 2015Review
- Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia.Journal of molecular medicine (Berlin, Germany) · 2015Article
- 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
- Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.British journal of haematology · 2013Article
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
Germline von Hippel-Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome comprising a predisposition for renal cell carcinoma, pheochromocytoma/paraganglioma, cerebral hemangioblastoma, and endolymphatic sac tumors. However, recessively inherited congenital polycythemia, exemplified by Chuvash polycythemia, has been associated with 2 separate 3' VHL gene mutations in exon 3. It was proposed that different positions of loss-of-function VHL mutations are associated with VHL syndrome cancer predisposition and only C-terminal domain-encoding VHL mutations would cause polycythemia. However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. We show that VHL(P138L) has perturbed interaction with hypoxia-inducible transcription factor (HIF)1α. Further, VHL(P138L) protein has decreased stability in vitro. Similarly to what was reported in Chuvash polycythemia and some other instances of HIFs upregulation, VHL(P138L) erythroid progenitors are hypersensitive to erythropoietin. Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes.
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