The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants

Genetic testing for inherited arrhythmias and discriminating pathogenic or benign variants from variants of unknown significance (VUS) is essential for gene-based medicine. KCNQ1 is a causative gene of type 1 long QT syndrome (LQTS), and approximately 30% of the variants found in type 1 LQTS are classified as VUS. We studied the role of zebrafish cardiac arrhythmia model in determining the clinical significance of KCNQ1 variants. We generated homozygous kcnq1 deletion zebrafish (kcnq1del/del) using the CRISPR/Cas9 and expressed human Kv7.1/MinK channels in kcnq1del/del embryos.

Source: Journal of Molecular and Cellular Cardiology - March 7, 2023 Category: Cytology Authors: Shihe Cui, Kenshi Hayashi, Isao Kobayashi, Kazuyoshi Hosomichi, Akihiro Nomura, Ryota Teramoto, Keisuke Usuda, Hirofumi Okada, Yaowen Deng, Jingjing Kobayashi-Sun, Tetsuo Nishikawa, Hiroshi Furusho, Takekatsu Saito, Hiroaki Hirase, Kunio Ohta, Manabu Fuji Source Type: research