Identification of a LMNA (c.646C＞T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM

• 来源期刊: 生物医学研究杂志（英文版）
• 学科: 医学
• 年，卷（期）: 2018,（4）
• 页码范围: 314-316
• 页数: 3页
• 分类号: R541.1
• 语种: 英文

摘要

Dilated cardiomyopathy (DCM) is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM concomitant with arrhythmias and sudden death resulting from gene mutation has been widely reported[2].In the current study,we report the identification of a mutation within lamin A (LMNA) (p.R216C) in a Han Chinese family with similar cardiac manifestations by using whole-exome sequencing in combination with a related gene filter and co-segregation analysis.