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Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification

Circulation. 2024-12; 
Matthew J O'Neill, Chai-Ann Ng, Takanori Aizawa, Luca Sala, Sahej Bains, Annika Winbo, Rizwan Ullah, Qianyi Shen, Chek-Ying Tan, Krystian Kozek, Loren R Vanags, Devyn W Mitchell, Alex Shen, Yuko Wada, Asami Kashiwa, Lia Crotti, Federica Dagradi, Giulia Musu, Carla Spazzolini, Raquel Neves, J Martijn Bos, John R Giudicessi, Xavier Bledsoe, Eric R Gamazon, Megan C Lancaster, Andrew M Glazer, Bjorn C Knollmann, Dan M Roden, Jochen Weile, Frederick Roth, Joe-Elie Salem, Nikki Earle, Rachael Stiles, Taylor Agee, Christopher N Johnson, Minoru Horie, Jonathan R Skinner, Michael J Ackerman, Peter J Schwartz, Seiko Ohno, Jamie I Vandenberg, Brett M Kroncke
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PCR Cloning and Subcloning 7 The generation of the KCNH2 variant, restriction digest, subcloning into the pcDNA5/FRT/TO vector, and confirmatory Sanger sequencing were completed by GenScript Inc. Get A Quote

摘要

Background: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded by KCNH2. Variant classification is difficult, often because of lack of functional data. Moreover, variant-based risk stratification is also complicated by heterogenous clinical data and incomplete penetrance. Here we sought to test whether variant-specific information, primarily from high-throughput functional assays, could improve both classification and cardiac event risk stratification in a large, harmonized cohort of KCNH2 missense variant heterozygotes. Methods: We quantified cell-surface trafficking of 18 796 variants in KCNH2 using a multiplexed assay of v... More

关键词

LQTS; arrhythmias; automated patch clamping; multiplexed assay of variant effect; risk stratification.