On the other hand, recent evidence demonstrates that the consequences of KRIT1 loss-of-function mutations extend beyond the pathogenesis of CCM disease, being also implicated in the development of aortic endothelial dysfunction and atherosclerosis (Vieceli Dalla Sega et al., 2019), as well as of epithelial barrier dysfunction in the gastrointestinal tract (Wei et al., 2020). The gene discussed is KRIT1; the disease is cerebral cavernous malformation.