ArticleJournal of human genetics2006
Molecular analysis of two uncharacterized sequence variants of the VHL gene.
Article in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- 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
- Article
- The pVHLOncotarget · 2017Article
- Von Hippel-Lindau disease: an evaluation of natural history and functional disability.Neuro-oncology · 2016Article
- The functional relevance of somatic synonymous mutations in melanoma and other cancers.Pigment cell & melanoma research · 2015Review
- The von Hippel-Lindau tumour suppressor gene: uncovering the expression of the pVHL172 isoform.British journal of cancer · 2015Article
- Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.International journal of oncology · 2012Article
- An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.Journal of human genetics · 2007Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the VHL gene cause von Hippel-Lindau disease, a cancer predisposing syndrome characterized by a variety of benign and malignant neoplasms. We report the molecular characterization of two sequence variants of the VHL gene: a synonymous substitution c.462 A>C in exon 2 and a duplication of 11 bp in the promoter region (c.-65_-55dup11). The first variant is a pathogenic mutation because, although it does not change the sense of the affected codon, it causes skipping of exon 2 in the affected allele by altering the splicing consensus site at the 3' end of exon 2. The 11 bp duplication represents a nonpathogenic variant. In fact, although it affects a critical region of the VHL promoter, it was found in healthy controls, and we show that carrier individuals express both VHL alleles at equimolar levels. Our data underline the importance of careful evaluation of the potential pathogenicity of sequence variants that may not belong to the obvious disease-causing mutation categories, or that affect relevant regulatory regions. mRNA analysis will be required to ultimately resolve this issue.
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