Cerebral cavernous malformations: somatic mutations in vascular endothelial cells
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 cell type (s)
in which somatic mutations occur. METHODS Somatic mutations were sought in DNA from 3 …
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 cell type (s)
in which somatic mutations occur. METHODS Somatic mutations were sought in DNA from 3 …