ArticleEuropean journal of human genetics : EJHG2014
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Retinal Capillary Haemangioblastoma: Clinical Spectrum, Imaging Insights, and Treatment Strategies.Ocular oncology and pathology · 2025Review
- Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.Investigative ophthalmology & visual science · 2025Article
- Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.International journal of molecular sciences · 2025Review
- International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.Nature reviews. Endocrinology · 2024Review
- Challenges in molecular diagnosis of multiple endocrine neoplasia.Frontiers in endocrinology · 2024Review
- Hemangioblastoma and mosaic von Hippel Lindau disease: rare presentation and review of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2023Review
- Systematic detection of mosaicism by using digital NGS reveals three new MEN1 mosaicisms.Endocrine connections · 2022Article
- Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.Clinical endocrinology · 2022Review
- Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.Human molecular genetics · 2022Article
- VHL mosaicism: the added value of multi-tissue analysis.NPJ genomic medicine · 2022Article
- Article
- PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.The Journal of molecular diagnostics : JMD · 2017Article
- High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.Familial cancer · 2015Article
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Authors and funding
8 authors.
Funding
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Abstract
The identification of Von Hippel-Lindau (VHL) mosaic mutations by conventional Sanger sequencing requires a labour-intensive enrichment step, thus explaining that mosaicism occurrence is underestimated in patients. Nowadays, it is possible to detect mutation in cell sub-populations by next-generation sequencing (NGS). Here, we described a diagnosis strategy using NGS with high coverage in a series of eight patients who were negative for a VHL abnormality by Sanger sequencing and deletion search. In two patients, a mosaic mutation in VHL was detected by NGS. One patient with a 5.7% mutated allele frequency had a severe phenotype and an early disease onset. In conclusion, clinical NGS in an hospital molecular oncogenetics laboratory is an efficient tool to identify VHL mosaic mutation. Its use may improve patient monitoring and genetic counseling.
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