Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death

Yu-Xing Liu; Rong Yu; Yue Sheng; Liang-Liang Fan; Yao Deng

doi:10.3389/fcvm.2022.971501

Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death

Front Cardiovasc Med. 2022 Oct 4:9:971501. doi: 10.3389/fcvm.2022.971501. eCollection 2022.

Authors

Yu-Xing Liu^{1

2

3}, Rong Yu⁴, Yue Sheng^{2

3}, Liang-Liang Fan^{1

2

3}, Yao Deng¹

Affiliations

¹ Department of Cardiovascular Surgery, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
² Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.
³ Hunan Key Laboratory of Animal Models for Human Disease, School of Life Sciences, Central South University, Changsha, China.
⁴ Department of Anesthesiology, The Second Xiangya Hospital, Central South University, Changsha, China.

Abstract

Background: Desmin is an intermediate filament protein that plays a critical role in the stabilization of the sarcomeres and cell contacts in the cardiac intercalated disk. Mutated DES gene can cause hereditary cardiomyopathy with heterogeneous phenotypes, while the underlying molecular mechanisms requires further investigation.

Methods: We described a Chinese family present with cardiomyopathy and sudden cardiac death (SCD). Whole-exome sequencing (WES) and bioinformatics strategies were employed to explore the genetic entity of this family.

Results: An unknown heterozygote missense variant (c.1300G > A; p. E434K) of DES gene was identified. The mutation cosegregates in this family. The mutation was predicted as pathogenic and was absent in our 200 healthy controls.

Conclusion: We identified a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and SCD. Our study not only provided a new case for the study of the relationship between DES mutations and hereditary cardiomyopathy but also broadened the spectrum of DES mutations.

Keywords: DES; SCD; hereditary cardiomyopathy; mutation; whole-exome sequencing.

Publication types

Case Reports