Abstract
The ring finger protein 213 gene (RNF213) is the most important susceptibility gene for moyamoya disease (MMD). The relationship between the RNF213 polymorphisms and MMD risk has also been identified in Chinese population. As the most common polymorphism in East Asian population, the p.R4810K (c.14576G>A) variant in RNF213 has been considered a founder mutation; however, the prevalence of p.R4810K variant is different between Japanese, Korean, and Chinese. In addition, several novel variants are identified only in Chinese patients but not in Korean and Japanese patients. These results suggest that the mutational spectrum of RNF213 gene may be different among different populations. MMD in Chinese population probably has more complex genetic background compared to Japanese and Korean MMD. We review the recent progress and significance of RNF213 in clinical management in Chinese MMD patients in this chapter.
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