A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation.

ABSTRACT: Background: Cerebral cavernous malformations (CCMs) are common vascular malformations that predominantly arise in the central nervous system and are mainly characterized by enlarged vascular cavities without intervening brain parenchyma. Familial CCMs (FCCMs) is inherited in an autosomal dominant pattern with incomplete penetrance and variable symptoms. Methods: Mutations of three pathogenic genes, CCM1, CCM2, and CCM3, were investigated by direct DNA sequencing in a Chinese family with multiple CCM lesions. Results: Four heterozygous variants in the CCM2 gene, including one deletion (c.95delC), a missense mutation (c.358G>A, p.V120I), one silent mutation (c.915G>A, p.T305T), and a substitution (c. ^*1452 T>C), were identified in the subj

SUBMITTER: Huang WQ 

PROVIDER: S-EPMC5030299 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature