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

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This article is Open Access under the terms of the Creative Commons CC BY-NC licence.

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 member 2) are responsible for LQTS in many patients. Here we report the novel mutation c.1898A>C in KCNH2 in a Chinese family with LQTS through whole-exome sequencing. The c.916dupA mutation in JUP (which encodes junction plakoglobin) is also discovered. Mutations in JUP were found to be associated with arrhythmogenic right ventricular cardiomyopathy. The double mutation in the proband may help explain his severe clinical manifestations, such as sudden cardiac death at an early age. Sequencing for the proband’s family members revealed that the KCNH2 mutation descends from his paternal line, while the mutation in JUP came from his maternal line. The data provided in this study may help expand the spectrum of LQTS-related KCNH2 mutations and add support to the genetic diagnosis and counseling of families affected by malignant arrhythmias.

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Keywords: Digenic mutation; JUP; KCNH2; Long QT syndrome (LQTS)

Document Type: Research Article

Affiliations: 1: Department of Cardiology, The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan 450052, P. R. China 2: Academy of Chinese Medical Sciences, Henan University of Chinese Medicine, Zhengzhou, Henan 450046, P. R. China 3: College of Life Sciences, Zhengzhou University, Zhengzhou, Henan 450000, P. R. China 4: Sino-British Research Center for Molecular Oncology, National Center for the International Research in Cell and Gene Therapy, School of Basic Sciences, Academy of Medical Sciences, Zhengzhou University, Zhengzhou, Henan 450052, P. R. China

Publication date: July 1, 2020

This article was made available online on June 24, 2020 as a Fast Track article with title: "Discovery of Digenic Mutation, KCNH2 c.1898A > C and JUP c.916dupA, in a Chinese Family with Long QT Syndrome via Whole-Exome Sequencing".

More about this publication?
  • Cardiovascular Innovations and Applications (CVIA) publishes focused articles and original clinical research that explore novel developments in cardiovascular disease, effective control and rehabilitation in cardiovascular disease, and promote cardiovascular innovations and applications for the betterment of public health globally. The journal publishes basic research that has clinical applicability in order to promote timely communication of the latest insights relating to coronary artery disease, heart failure, hypertension, cardiac arrhythmia, prevention of cardiovascular disease with a heavy emphasis on risk factor modification. Cardiovascular Innovations and Applications is the official journal of the Great Wall International Congress of Cardiology (GW-ICC). It aims to continue the work of the GW-ICC by providing a global scientific communication platform for cardiologists that bridges East and West.

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