High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

ABSTRACT: Cerebral cavernous malformations (CCM) are prevalent vascular malformations occurring in familial autosomal dominantly inherited or isolated forms. Once CCM are diagnosed by magnetic resonance imaging, the indication for genetic testing requires either a positive family history of cavernous lesions or clinical symptoms such as chronic headaches, epilepsy, neurological deficits, and hemorrhagic stroke or the occurrence of multiple lesions in an isolated case. Following these inclusion criteria, the mutation detection rates in a consecutive series of 105 probands were 87% for familial and 57% for isolated cases. Thirty-one novel mutations were identified with a slight shift towards proportionally more CCM3 mutations carriers than previously published (CCM1: 60%, CCM2: 18%, CCM3: 22%). In-fra

SUBMITTER: Spiegler S 

PROVIDER: S-EPMC3960060 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature