Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease

OBJECTIVE: ) in relation to a particular clinical phenotype in Chinese patients with moyamoya disease (MMD) to determine whether heterozygosity is responsible for the early-onset and severe form of this disease. METHODS: p.R4810K involving 1,385 Chinese patients with MMD and 2,903 normal control participants was performed. Correlation analyses between genotype and phenotype or different clinical features were also statistically explored. CONCLUSIONS: p.R4810K is closely related MMD risk in China and has given rise to an earlier onset age and more severe PCA involvement.