Meta-analysis of genotype and phenotype studies of RNF213 p.R4810K in moyamoya disease


  • The homozygous or heterozygous RNF213 may be an efficient biomarker for classification of different clinical phenotypes of moyamoya disease (MMD).

Why this matters

  • MMD (an idiopathic cerebrovascular disease) is the main cause of childhood and adolescent stroke in East Asian countries, can result in irreversible neurological and cognitive deficits, and has been linked to the p.R4810K locus of the RNF213 gene (RNF213 p.R4810K); however, its association with clinical phenotypic variability has not been identified.

  • The potential status of RNF213 p.R4810K as an MMD biomarker has important implications for earlier diagnosis, treatment and consequently, more favorable outcomes for children who display clinical symptoms of MMD.