FIRST REPORT OF A RARE RNF213 VARIANT ASSOCIATED WITH FAMILIAL MOYAMOYA DISEASE IN AN AFRICAN AMERICAN FAMILY

•1st report of heritable moyamoya disease in Black family.•1st Black people and 5th family worldwide with rare R4131C variant of RNF213 gene.•R4131C is likely pathogenic.•Wide phenotype: asymptomatic carrier to fulminant stroke & cerebrovascular disease.•Racial and ethnic diversity among participants of biomedical research is critical.