Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease

Moyamoyadisease(MMD,MIM607151)is a rarevascular condition that has high recurrence,mortality,and disability rates,and an effective treatment for this disease is currently lacking.The main symptoms of affected children and adults include ischemic and hemorrhagic strokes,with an age of onset that follows a bimodal distribution trend at approximately 5 and 40 years of age.