CCM3 mutations are uncommon in cerebral cavernous malformations.
case_series · Level IV
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- Record sourced from PubMed, PMID 16380626.
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Abstract
Cerebral cavernous malformations (CCMs) are characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Mutations in the gene PDCD10 have been found in CCM families linked to the CCM3 locus. The authors screened this gene in 15 families that did not have a CCM1 or CCM2 mutation. Only two novel mutations were found, suggesting that mutations in this gene may only account for a small percentage of CCM familial cases.
Medical subject headings
- Apoptosis Regulatory Proteins
- Cerebral Arteries
- Cerebral Cortex
- Genetic Predisposition to Disease
- Hemangioma, Cavernous, Central Nervous System
- Membrane Proteins
- Mutation
- Proto-Oncogene Proteins