Screening of ABCG5 and ABCG8 Genes for Sitosterolemia in a Familial Hypercholesterolemia Cascade Screening Program.
Mauricio Teruo TadaViviane Zorzanelli Rocha GiraldezIsabella Ramos LimaThéo Gremen Mimary OliveiraAna Paula Marte ChacraMarcio Hiroshi MinameValéria Sutti NunesEdna Regina NakandakareMaria Helane Costa Gurgel CasteloCinthia Elim JannesRaul Dias Dos Santos FilhoJose Eduardo KriegerAlexandre da Costa PereiraPublished in: Circulation. Genomic and precision medicine (2022)
Testing genes associated with sitosterolemia in the molecular routine workflow of a familial hypercholesterolemia cascade screening program allowed the precise diagnosis of sitosterolemia in a substantial number of patients with varying LDL-C levels and high incidence of early atherosclerotic cardiovascular disease and hematologic abnormalities.