RNF213 gene mutations in moyamoya patients in Northern Henan, China

Background: Polymorphisms in Ring Finger Protein 213 (RNF213) are significantly associated with moyamoya disease (MMD) in Japan and Korea, and to a lesser degree in China. We performed a hospital-based case-control study in a Northern Henan Chinese population to elucidate the possible underlying reasons.Methods: We conducted whole-exome sequencing for 50 MMD patients and 80 control individuals, and the clinical phenotype was compared between patients with and without polymorphisms (i.e., carriers and noncarriers, respectively).