Article
Cerebral cavernous malformations: somatic mutations in vascular endothelial cells.
Neurosurgery - 1 Jul 2009
Gault Judith, Awad Issam A, Recksiek Peter, Shenkar Robert, Breeze Robert, Handler Michael, Kleinschmidt-DeMasters Bette K
Abstract excerpt
OBJECTIVE: Germline mutations in 3 genes have been found in familial cases of cerebral cavernous malformations (CCMs). We previously discovered somatic and germline truncating mutations in the KRIT1 gene, supporting the "2-hit" mechanism of CCM lesion formation in a single lesion. The purpose of this study was to screen for somatic, nonheritable mutations in 3 more lesions from different patients and identify the...
Topics
- Adolescent
- Apoptosis Regulatory Proteins
- Child, Preschool
- DNA Mutational Analysis
- Endothelial Cells
- Female
- Gene Frequency
- Genotype
- Humans
- Intracranial Arteriovenous Malformations
- KRIT1 Protein