Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms

Klingler, Jan-Helge; Krüger, Marie T; Lemke, Johannes R; Jilg, Cordula; Van Velthoven, Vera; Zentner, Josef; Neumann, Hartmut P H; Gläsker, Sven (2013). Sequence variations in the von Hippel-Lindau tumor suppressor gene in patients with intracranial aneurysms. Journal of stroke and cerebrovascular diseases, 22(4), pp. 437-43. New York, N.Y.: W.B. Saunders 10.1016/j.jstrokecerebrovasdis.2013.01.016

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The rupture of intracranial aneurysms leads to subarachnoid hemorrhage, which is often associated with poor outcome. Preventive treatment of unruptured intracranial aneurysms is possible and recommended. However, the lack of candidate genes precludes identifying patients at risk by genetic analyses. We observed intracranial aneurysms in 2 patients with von Hippel-Lindau (VHL) disease and the known disease-causing mutation c.292T > C (p.Tyr98His) in the VHL tumor suppressor gene. This study investigates whether the VHL gene is a possible candidate gene for aneurysm formation.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Lemke, Johannes
ISSN:	1052-3057
Publisher:	W.B. Saunders
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:41
Last Modified:	05 Dec 2022 14:12
Publisher DOI:	10.1016/j.jstrokecerebrovasdis.2013.01.016
PubMed ID:	23434161
Web of Science ID:	000318915500025
URI:	https://boris.unibe.ch/id/eprint/16546 (FactScience: 224201)