First report: Rare RNF213 variant associated with familial moyamoya disease in an African American family
Sunmonu N, Ambati N, Thomas M, Ulep R, Worrall B. First report: Rare RNF213 variant associated with familial moyamoya disease in an African American family. Journal Of Stroke And Cerebrovascular Diseases 2021, 30: 106123. PMID: 34666234, DOI: 10.1016/j.jstrokecerebrovasdis.2021.106123.Peer-Reviewed Original ResearchConceptsMoyamoya diseaseAfrican American familiesEthnically diverse participantsPotential genetic susceptibilityFamilial moyamoya diseaseFirst-degree relativesAmerican familiesLate presentationFatal courseNeurological eventsRNF213 geneMild diseasePhenotypic spectrumNeurovascular imagingThalamic strokeFatal childhood diseaseIschaemic infarctionYoung probandsGenetic susceptibilityHeritable genetic diseaseDiverse participantsChildhood diseasesDiseaseGenetic diseasesRNF213Abstract P588: A Rare RNF213 Variant is Associated With Moyamoya Disease in an African American Family
Sunmonu N, Thomas M, Ulep R, Ambati N, Worrall B. Abstract P588: A Rare RNF213 Variant is Associated With Moyamoya Disease in an African American Family. Stroke 2021, 52 DOI: 10.1161/str.52.suppl_1.p588.Peer-Reviewed Original ResearchAfrican American familiesFamilial moyamoya diseaseEthnically diverse participantsRelatives of probandsPotential genetic susceptibilityMoyamoya diseaseAmerican familiesCerebrovascular imagingFamily historyGenetic testingRNF213 variantsLate presentationPaternal half-brothersGenetic susceptibilityAssociated with moyamoya diseaseDiverse participantsEthnic backgroundChildhood diseasesBody of evidenceResidual neurological deficitsFatal childhood diseaseAsymptomatic relativesGrowing body of evidenceEvaluating patientsACTA2 gene