Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy

Journal of Translational Medicine

Mingmin Li¹  Shuang Xia¹  Hong Tan¹  Liwen Li¹  Zejia Wu¹  Lan Xu¹  Xuyu He¹  Junqing Yang¹ 

[1] Department of Cardiology, Guangdong Cardiovascular Institute, Guangdong Provincial Key Laboratory of Coronary Heart Disease Prevention, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China;

关键词: Idiopathic dilated cardiomyopathy;    TTN;    TNNT2;    RBM20;    FLNC;   

DOI  :  10.1186/s12967-021-02832-3

来源: Springer

【 摘 要 】

BackgroundInherited dilated cardiomyopathy (DCM) contributes to approximately 25% of idiopathic DCM cases, and the proportion is even higher in familial DCM patients. Most studies have focused on familial DCM, whereas the genetic profile of sporadic DCM in Chinese patients remains unknown.MethodsBetween June 2018 and September 2019, 24 patients diagnosed with idiopathic DCM without a family history were included in the present study. All patients underwent genetic screening for 80 DCM-related genes using targeted next-generation sequencing.ResultsBy in silico analysis, 10 of 99 detected variants were considered pathogenic or likely-pathogenic, including seven TTN truncating variants (TTNtv), one in-frame deletion in TNNT2, one missense mutation in RBM20, and one frameshift deletion variant in FLNC. Of these variants, eight are reported for the first time.ConclusionsUsing targeted next-generation sequencing, potential genetic causes of idiopathic DCM were identified. Sarcomere mutations remained the most common genetic cause of inherited DCM in this cohort of sporadic Chinese DCM.

【 授权许可】

CC BY