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Related Experiment Video

Updated: Jun 15, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Von hippel-lindau disease.

Frederik J Hes¹, Jo Wm Höppener, Rob B van der Luijt

¹Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden. f.j.hes@lumc.nl.

Hereditary Cancer in Clinical Practice

|March 13, 2010

Summary

Germline mutations in the Von-Hippel Lindau (VHL) gene cause VHL disease, leading to vascular tumors. Molecular genetic analysis of the VHL gene confirms diagnosis, guiding genetic counseling and patient monitoring.

Area of Science:

Oncology
Genetics
Molecular Biology

Background:

Von-Hippel Lindau (VHL) disease is a hereditary cancer syndrome.
It is caused by germline mutations in the VHL tumor suppressor gene.
VHL disease predisposes individuals to highly vascularized tumors in multiple organs.

Purpose of the Study:

To describe the genetic basis and clinical implications of VHL disease.
To highlight the role of the VHL gene in angiogenesis regulation.
To emphasize the importance of molecular genetic testing and surveillance.

Main Methods:

Review of existing literature on VHL disease.
Discussion of the VHL gene's function in regulating hypoxia-inducible factor 1-alpha (HIF1-alpha).
Emphasis on molecular genetic analysis for diagnosis.

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Assessment and Characterization of Hyaloid Vessels in Mice

Assessment and Characterization of Hyaloid Vessels in Mice

Published on: May 15, 2019

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Published on: December 1, 2017

Assessment and Characterization of Hyaloid Vessels in Mice

Assessment and Characterization of Hyaloid Vessels in Mice

Published on: May 15, 2019

Main Results:

Germline VHL gene mutations lead to tumor development in the retina, cerebellum, kidney, and pancreas.
VHL gene mutations are linked to cerebellar hemangioblastomas and renal cell carcinoma, major causes of mortality.
The VHL gene product regulates angiogenesis via HIF1-alpha activity.

Conclusions:

Molecular genetic analysis of the VHL gene is crucial for diagnosing VHL disease.
Genetic testing confirms the diagnosis in nearly all affected families.
Patients with suspected VHL disease require genetic counseling and regular medical examinations.