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CCM3 mutations are uncommon in cerebral cavernous malformations

From the Faculté de Médecine, Université de Montréal, Centre de recherche du CHUM, Hôpital Notre-Dame, Montreal, Quebec, Canada (Drs. Verlaan, Roussel, Laurent, and Rouleau); Department of Human Genetics, McGill University, Montreal, Quebec, Canada (Dr. Verlaan); Department of Epileptology, University of Bonn, Germany (Dr. Elger); and Epilepsy Program, Department of Neurology, University Hospital Zürich, Switzerland (Dr. Siegel).

Address correspondence and reprint requests to Dr. Guy A. Rouleau, Centre de recherche du CHUM, Hôpital Notre-Dame, 1560 rue Sherbrooke Est, Bureau Y-3633, Montréal, Québec, H2L 4M1, Canada; e-mail: guy.rouleau{at}umontreal.ca

Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Mutations in the gene PDCD10 have been found in CCM families linked to the CCM3 locus. The authors screened this gene in 15 families that did not have a CCM1 or CCM2 mutation. Only two novel mutations were found, suggesting that mutations in this gene may only account for a small percentage of CCM familial cases.

D.J.V. is supported by a Quebec Health Research Fund Training and Support for Research scholarship. G.A.R. is supported by the Canadian Institute of Health Research and the Quebec Health Research Fund.

Disclosure: The authors report no conflicts of interest.

Received April 11, 2005. Accepted in final form September 7, 2005.

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