Neurogenetics

, Volume 8, Issue 2, pp 149–153

Large germline deletions and duplication in isolated cerebral cavernous malformation patients

  • U. Felbor
  • S. Gaetzner
  • D. J. Verlaan
  • R. Vijzelaar
  • G. A. Rouleau
  • A. M. Siegel
Short Communication

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 

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • U. Felbor
    • 1
  • S. Gaetzner
    • 1
  • D. J. Verlaan
    • 2
  • R. Vijzelaar
    • 3
  • G. A. Rouleau
    • 2
  • A. M. Siegel
    • 4
  1. 1.Department of Human GeneticsUniversity of WürzburgWürzburgGermany
  2. 2.Centre de recherche du CHUM, Hôpital Notre-DameUniversity of MontrealQuebecCanada
  3. 3.MRC-HollandAmsterdamThe Netherlands
  4. 4.Department of NeurologyUniversity Hospital ZurichZurichSwitzerland

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