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01-04-2007 | Short Communication

Large germline deletions and duplication in isolated cerebral cavernous malformation patients

Authors: U. Felbor, S. Gaetzner, D. J. Verlaan, R. Vijzelaar, G. A. Rouleau, A. M. Siegel

Published in: Neurogenetics | Issue 2/2007

Abstract

Cerebral cavernous malformations (CCM) are vascular lesions that predispose to headaches, seizures, and hemorrhagic stroke. Hereditary CCMs are usually associated with the occurrence of multiple CCMs and occur with a frequency of 1:2,000 to 1:10,000. In this study, eight isolated cases with multiple CCMs but no CCM1-3 point mutation were analyzed using the multiplex ligation-dependent probe amplification assay. Four genomic rearrangements were identified including a previously unreported large duplication within the CCM1 gene and a novel deletion involving the entire coding region of the CCM2 gene. Consequently, systematic screening for CCM deletions/duplications is recommended.

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Title: Large germline deletions and duplication in isolated cerebral cavernous malformation patients
Authors: U. Felbor
S. Gaetzner
D. J. Verlaan
R. Vijzelaar
G. A. Rouleau
A. M. Siegel
Publication date: 01-04-2007
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 2/2007
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-006-0076-7

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Large germline deletions and duplication in isolated cerebral cavernous malformation patients

Abstract

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