Identifi cation of Novel TTN Mutations in Three Chinese Familial Dilated Cardiomyopathy Pedigrees by Whole Exome Sequencing  

作　　者：Ying Peng Jinxin Miao Yafei Zhai Guangming Fang Chuchu Wang Yaohe Wang Xiaoyan Zhao Jianzeng Dong 

机构地区：[1]Department of Cardiology,The First Affi liated 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 [5]Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China

出　　处：《Cardiovascular Innovations and Applications》2020年第2期229-237,共9页心血管创新与应用（英文）

基　　金：the National Key R&D Program of China(grant no.018YFC1312505 to X.Z.);the Henan University of Chinese Medicine(grant no.00104311-2019-55 to J.M.).

摘　　要：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.

关 键 词：TTN mutations DCM heart failure 

分 类 号：R54[医药卫生—心血管疾病]