Exome Sequencing of a Large Multi-Ethnic Population of Moyamoya Patients. Homo sapiens

Moyamoya disease (MMD) is a rare disorder characterized by cerebrovascular occlusion and hemorrhage-prone vessels. The causes are unclear and only RNF213( p.R4810K) has been identified in Asian MMD. The authors internally sequenced in parallel the exomes of 125 ethnically-diverse MMD patients and 125 controls using the same exome and analysis platform. The RNF213(p.R4810K) variant was confirmed in East Asians, and genes involved in MHC Class II activation and myofibrillogenesis in Caucasian and non-RNF213(p.R4810K) cases were identified, in addition to many other variants and genes. These candidates may be important in MMD etiology and diagnosis and provide avenues for future research.