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Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease.

Gene - 30 Mar 2018

Fan Liang-Liang, Huang Hao, Jin Jie-Yuan, Li Jing-Jing, Chen Ya-Qin, Zhao Shui-Ping, Xiang Rong

Abstract excerpt

Dilated Cardiomyopathy (DCM) and cardiac conduction disease (CCD) are two kinds if diseases that can induce heart failure, syncope and even sudden cardiac death (SCD). DCM patients can experience CCD at the same time. In recent research, some disease-causing genes and variants have been identified in patients with DCM and CCD, such as Alpha-Actinin-2 and TNNI3 Interacting Kinase (TNNI3K). In this study, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29355681
DOI: 10.1016/j.gene.2018.01.055

Genes

SCD
TNNI3

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