Clinical utility gene card for: von Hippel–Lindau (VHL)

Decker, Jochen; Neuhaus, Christine; Macdonald, Fiona; Brauch, Hiltrud

doi:10.1038/ejhg.2013.180

Cited by 15 publications

(12 citation statements)

References 19 publications

(20 reference statements)

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“…At the time of the estimate, the effect of recently initiated surveillance programmes was probably not yet evident. Presently, the vHL diagnosis is often made through pre-symptomatic genetic testing3 4 24 and we included VHL mutation carriers regardless of phenotype. We showed that vHL survival is highly dependent on a person's birth year; the younger he or she is, the longer is the life expectancy.…”

Section: Discussionmentioning

confidence: 99%

Survival and causes of death in patients with von Hippel-Lindau disease

et al. 2016

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Section: Discussionmentioning

confidence: 99%

Survival and causes of death in patients with von Hippel-Lindau disease

et al. 2016

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“…It remains possible that the c.361G>C variant is a benign marker of an undetected pathogenic mutation elsewhere in the VHL gene shared by mother and daughter. VHL sequencing and MLPA are very sensitive, so an undetected mutation is unlikely. Another possibility is that the variant is benign and the familial phenotype is explained by another mechanism.…”

Section: Pathogenicity Of C361g>cmentioning

confidence: 99%

Metastatic phaeochromocytoma in a 23‐year‐old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

Russell

Delatycki

Grossmann

2015

Clinical Endocrinology

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A 23-year-old woman with metastatic phaeochromocytoma was found to have a previously unclassified variant in the von Hippel Lindau disease gene (c.361G>C). We use this case to highlight the issue of unclassified single nucleotide variants and the approaches to help predict whether they are disease causing or neutral. With increasing use of genetic testing, and widespread clinical use of next-generation sequencing around the corner, this issue is likely to become more prominent.

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“…VHLs is caused by allelic variants in the tumor suppressor gene VHL (NC_000003.12). Patients with this genetic disease may develop tumors of the viscera and CNS (5,6). When anorexia presents without other symptoms, anorexia nervosa (AN) emerges as the most likely diagnosis, particularly in young and previously healthy women (7,8).…”

Section: Introductionmentioning

confidence: 99%

Anorexia as the first clinical manifestation of von Hippel‑Lindau syndrome

et al. 2020

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Hemangioblastomas (HBs) of the brain may present without neurological symptoms over a long period of time due to their benignity and slow growth. We herein present the case of a female patient who developed a HB of the fourth ventricle presenting only with severe weight loss and anorexia. The patient was screened for mutations in all 3 exons of the VHL gene using Sanger sequencing, and was found to have a nonsense mutation in the VHL gene (single-nucleotide change causing a premature stop codon: c.481C>T; p.Arg161*), causing formation of a truncated protein, consistent with von Hippel-Lindau syndrome (VHLs). The patient was first misdiagnosed with anorexia nervosa (AN) due to the lack of other symptoms. Molecular diagnosis allows further investigation of other VHLs-related tumors and timely, appropriate treatment. However, misdiagnosing anorexia nervosa may lead to poor prognosis and even death; thus, differential diagnosis is crucial in all such cases. The present case report provides evidence that fourth ventricular lesions may affect food intake control and satiety, and highlights the importance of accurate molecular diagnosis.

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Clinical utility gene card for: von Hippel–Lindau (VHL)

Cited by 15 publications

References 19 publications

Survival and causes of death in patients with von Hippel-Lindau disease

Survival and causes of death in patients with von Hippel-Lindau disease

Metastatic phaeochromocytoma in a 23‐year‐old woman with an unclassified variant in the von Hippel Lindau disease gene: how can the pathogenicity of this variant be determined?

Anorexia as the first clinical manifestation of von Hippel‑Lindau syndrome

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