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Neurogenetics. 2007 Apr;8(2):149-53. Epub 2007 Jan 9.

Large germline deletions and duplication in isolated cerebral cavernous malformation patients.

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1
Department of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074 Würzburg, Germany. felbor@biozentrum.uni-wuerzburg.de

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.

PMID:
17211633
DOI:
10.1007/s10048-006-0076-7
[Indexed for MEDLINE]
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