The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger.Exome sequencing from 39 trios were analyzed.We identified four de novo variants in three genes not previously associated with MMA: CHD4, CNOT3, and SETD5. Identification of...