Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

Discovery of Digenic Mutation, KCNH2 c.1898A >C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing

Long QT syndrome (LQTS), which is caused by an ion channel–related gene mutation, is a malignant heart disease with a clinical course of a high incidence of ventricular fibrillation and sudden cardiac death in the young. Mutations in KCNH2 (which encodes potassium voltage-gated channel subfamily H m...

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Bibliographic Details
Main Authors: Yafei Zhai, Jinxin Miao, Ying Peng, Guangming Fang, Chuchu Wang, Yaohe Wang, Xiaoyan Zhao, Jianzeng Dong
Format: Article
Language:English
Published: Compuscript 2020-07-01
Series:Cardiovascular Innovations and Applications
Subjects:
long qt syndrome (lqts)
digenic mutation
kcnh2
jup
Online Access:https://www.ingentaconnect.com/content/cscript/cvia/2020/00000004/00000004/art00004

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