High-Throughput Microscopy Characterization of Rare LDLR Variants

Rafael Graça,Magdalena Zimon,Ana C. Alves,Rainer Pepperkok,Mafalda Bourbon

JACC. Basic to translational science（2023）

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摘要

•Around 40% of LDLR variants are classified as VUS, posing as the biggest hurdle to reach a definitive FH diagnosis.•We optimized and validated a time- and cost-effective high-throughput cell-based assay to functionally profile rare LDLR variants.•This methodology is a valuable resource for systematic functional characterization of LDLR variants, with the potential to discriminate disruptive rare variants from silent ones, solving 1 of the major issues in definitive FH diagnosis.

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关键词

ACMG classification,familial hypercholesterolemia,high-throughput characterization,LDLR

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