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

DOI: 10.1007/s10048-006-0076-7

Cite this article as:
Felbor, U., Gaetzner, S., Verlaan, D.J. et al. Neurogenetics (2007) 8: 149. doi:10.1007/s10048-006-0076-7

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 malformationsCerebral cavernous malformationMLPADeletionDuplication

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