Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events.
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SUBMITTER: Lu H
PROVIDER: S-EPMC9659898 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
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Association of the P441L KCNQ1 variant with severity of long QT syndrome and risk of cardiac events.
Lu Haoyang H Ding Wen W Xiao Hui H Dai Manyu M Xue Yangcheng Y Jia Zhuoran Z Guo Jie J Wu Mengzuo M Shen Bing B Zhao Ren R
Frontiers in cardiovascular medicine 20221031
Dysfunction of potassium voltage-gated channel subfamily Q member 1 (KCNQ1) is a primary cause of long QT syndrome type 1 (LQT1). Here, we report a missense mutation P441L in KCNQ1 C-terminus of a 37-year-old woman with severe LQT1 phenotype. Variant P441L transporting to the plasma membrane and interacting with KCNE1 were both markedly decreased, leading to potassium efflux disorder and eventually LQT1. Mutations between the C-terminal helix A and helix B of KCNQ1 have linked with low cardiac e ...[more]
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