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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Acknowledgment
The authors thank the patients for their cooperation. Ute Felbor receives an Emmy Noether grant from the Deutsche Forschungsgemeinschaft (Fe 432/6–5) and is supported by a grant from the Bavarian Genome Network. The experiments comply with the current German laws.
Disclosure The authors have reported no conflicts of interest.
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Felbor, U., Gaetzner, S., Verlaan, D.J. et al. Large germline deletions and duplication in isolated cerebral cavernous malformation patients. Neurogenetics 8, 149–153 (2007). https://doi.org/10.1007/s10048-006-0076-7
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DOI: https://doi.org/10.1007/s10048-006-0076-7