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

作者：Yue Wang, Zhengshan Zhang, Ling Wei, Qian Zhang, Zhengxing Zou, Luping Yang, Desheng Li, Mengke Shang, Cong Han, Michael Mambiya, Xiang‐Yang Bao, Qian Li, Fangbin Hao, Kaili Zhang, Hui Wang, Shan Liu, Mengwei Liu, Fanxin Zeng, Fangfang Nie, Kai Wang, Wanyang Liu, Lian Duan · 发表于：Neurology · 年份：2020 · DOI：10.1212/wnl.0000000000008901 · 被引用次数：79 · 研究领域：Moyamoya disease diagnosis and treatment、Cerebrovascular and genetic disorders、Nuclear Receptors and Signaling

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. RESULTS: ). CONCLUSIONS: p.R4810K is closely related MMD risk in China and has given rise to an earlier onset age and more severe PCA involvement.