Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long-QT syndrome carrying KCNQ1-A344Aspl mutation

Long-QT syndrome type 1 (LQT1) is caused by mutations in KCNQ1, which encodes the α-subunit of the slow delayed rectifier potassium current (IKs) channel. We previously reported that a synonymous mutation, c.1032G>A, p.A344Aspl in KCNQ1 is most commonly identified in the genotyped LQT1 Japanese patients, and the aberrant splicing was analyzed in the lymphocytes isolated from patients ’ blood samples. However, the mechanisms underlying the observed processes in human cardiomyocytes remains unclear.

Source: Heart Rhythm - May 29, 2018 Category: Cardiology Authors: Yimin Wuriyanghai, Takeru Makiyama, Kenichi Sasaki, Tsukasa Kamakura, Yuta Yamamoto, Mamoru Hayano, Takeshi Harita, Suguru Nishiuchi, Jiarong Chen, Hirohiko Kohjitani, Sayako Hirose, Fumika Yokoi, Jingshan Gao, Kazuhisa Chonabayashi, Ken Watanabe, Seiko O Source Type: research