Article
Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: evidence for a common biochemical pathway for CCM pathogenesis.
Human molecular genetics - 15 Aug 2014
McDonald David A, Shi Changbin, Shenkar Robert, Gallione Carol J, Akers Amy L, Li Stephanie, De Castro Nicholas, Berg Michel J, Corcoran David L, Awad Issam A, Marchuk Douglas A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular lesions affecting the central nervous system. CCM occurs either sporadically or in an inherited, autosomal dominant manner. Constitutional (germline) mutations in any of three genes, KRIT1, CCM2 and PDCD10, can cause the inherited form. Analysis of CCM lesions from inherited cases revealed biallelic somatic mutations, indicating that CCM follows a Knudsonian...
Topics
- Apoptosis Regulatory Proteins
- Carrier Proteins
- Central Nervous System Neoplasms
- Endothelial Cells
- Hemangioma, Cavernous, Central Nervous System
- Humans
- KRIT1 Protein
- Membrane Proteins
- Microtubule-Associated Proteins