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Open Access Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing

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

Familial dilated cardiomyopathy (DCM) is associated with numerous genes, especially those of the sarcomere family. The titin gene (TTN) consists of 365 exons and encodes the largest sarcomere protein (titin) in our bodies. Titin is associated with many diseases, such as hypertrophic cardiomyopathy and DCM. Here we screened three Chinese families affected by DCM, and found that each harbors a stop-gain or splice site mutation in TTN (c.G20137T,c. G52522T,c.44610-2A>C). Assessment of the probands by electrocardiogram, B-mode echocardiography, and cardiac magnetic resonance imaging revealed impaired cardiac function, arrhythmia, or abnormal cardiac structure. In conclusion, using whole exome sequencing, we found three unreported TTN mutations associated with DCM. This has expanded the TTN mutation spectrum of Chinese DCM patients, especially in Henan, the most populous province. These data provide new genetic targets for the diagnosis and treatment of DCM, and will increase our understanding of the relationship between TTN mutation and DCM clinical symptoms.

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Keywords: DCM; TTN mutations; heart failure

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 17, 2020 as a Fast Track article with title: "Identification of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing".

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  • 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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