Table 1

 Genes involved in familial cerebral cavernous malformations (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM)

CCM1CCM2CCM3
Locus7q11–q227p15–133q25.2–q27
Gene KRIT1 MGC4607(malcavernin) PDCD10
OMIM604214603284603285
Mutation typeLoss of functionLoss of function?Loss of function?
Second hit/trans-heterozygosity1 Patient??
???
Molecular functionModulator of ICAP1α, malcavernin interaction, association with microtubules?KRIT1 interaction, scaffold for MEKK3?
Cellular/tissue functionCell adhesion/migration, arterial morphogenesis/identityOsmoregulation ?Apoptosis?
Clinical penetrance62–88%??
References12–15, 20, 24, 26, 28, 29, 4013, 21, 22, 2613, 23, 26