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.
Subject(s)
Apoptosis Regulatory Proteins/genetics , Cerebral Arteries/abnormalities , Cerebral Cortex/pathology , Genetic Predisposition to Disease/genetics , Hemangioma, Cavernous, Central Nervous System/genetics , Membrane Proteins/genetics , Mutation/genetics , Proto-Oncogene Proteins/genetics , Cerebral Cortex/blood supply , Chromosome Mapping , Chromosomes, Human, Pair 3/genetics , Codon, Nonsense/genetics , DNA Mutational Analysis , Female , Genetic Markers/genetics , Genetic Testing , Hemangioma, Cavernous, Central Nervous System/metabolism , Hemangioma, Cavernous, Central Nervous System/physiopathology , Humans , Male , Pedigree , RNA Splice Sites/geneticsABSTRACT
Cerebral cavernous malformations (CCM) are CNS vascular anomalies associated with seizures, headaches, and hemorrhagic strokes. The CCM1 gene was screened in 35 sporadic cases with either single or multiple CCM. It was found that 29% of the individuals with multiple CCM have a CCM1 mutation, whereas cases with only one malformation have none. Sporadic cases with multiple malformations warrant the same approach as individuals who have a familial history of CCM.
