Familial Moyamoya disease associated with dual RNF213 variants (R4810K and T1727M): A case report and genetic investigation

We report for the first time a multigenerational case with dual RNF213 variants (R4810K and T1727M) and modifiers in familial MMD. The findings underscore the importance of genetic screening in at-risk families and suggest that dual RNF213 mutations may increase disease penetrance. Further mechanistic studies are warranted to elucidate gene-gene interactions and the role of additional modifiers in MMD pathogenesis.