Whole-Exome Sequencing Identifies Two Novel TTN Mutations in Chinese Families with Dilated Cardiomyopathy

Release time:2017-03-30

Impact Factor:1.791

Journal:Cardiology

Key Words:TTN mutations, Dilated cardiomyopathy, Whole-exome sequencing

Abstract:OBJECTIVES: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. METHODS: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations. Sanger sequencing was applied to confirm the mutation cosegregation in the affected families. RESULTS: A nonse

Note:OBJECTIVES: Dilated cardiomyopathy (DCM) is a leading cause of sudden cardiac death. So far, only 127 mutations of Titin(TTN) have been reported in patients with different phenotypes such as isolated cardiomyopathies, purely skeletal muscle phenotypes or complex overlapping disorders of muscles. METHODS: We applied whole-exome sequencing (WES) to investigate cardiomyopathy patients and a cardiomyopathy-related gene-filtering strategy was used to analyze the disease-causing mutations. Sanger sequ

Co-author:Xiang R, Xia K, Tao L J, Huang H, Liu X, Zhang H, Fan L L, Liu J S

Indexed by:Unit Twenty Basic Research

Discipline:生物学

Document Type:J

Volume:136

Issue:1

Page Number:10-14

Translation or Not:no

Date of Publication:2017-01-31

Included Journals:SCI

Links to published journals:https://www.karger.com/Article/FullText/447422