Short Communication

Neurogenetics

, Volume 8, Issue 2, pp 149-153

First online:

Large germline deletions and duplication in isolated cerebral cavernous malformation patients

  • U. FelborAffiliated withDepartment of Human Genetics, University of Würzburg Email author 
  • , S. GaetznerAffiliated withDepartment of Human Genetics, University of Würzburg
  • , D. J. VerlaanAffiliated withCentre de recherche du CHUM, Hôpital Notre-Dame, University of Montreal
  • , R. VijzelaarAffiliated withMRC-Holland
  • , G. A. RouleauAffiliated withCentre de recherche du CHUM, Hôpital Notre-Dame, University of Montreal
  • , A. M. SiegelAffiliated withDepartment of Neurology, University Hospital Zurich

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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.

Keywords

Vascular malformations Cerebral cavernous malformation MLPA Deletion Duplication