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

• 作者: Chuchu Wang Guangming Fang Jianzeng Dong Jinxin Miao Xiaoyan Zhao Yafei Zhai Yaohe Wang Ying Peng
• 来源期刊: Cardiovascular Innovations and Applications
• 学科: 医学
• 关键词: TTN mutations DCM heart failure
• 年，卷（期）: 2020,（2）
• 页码范围: 229-237
• 页数: 9页
• 分类号: R54

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.