KRIT1 and cerebrocostomandibular syndrome: According to recent studies, variants in 3 genes, CCM1/KRIT1, CCM2, and CCM3/PDCD10, were found in 30–40% of sporadic CCMs patients [8], the products of CCM3/PDCD10 have been proven to play an essential role in regulating angiogenesis [9] and stress response [10].