| Identification of a novel MYH7 gene mutation in the Han population associated with familial dilated cardiomyopathy by whole-exome sequencing |
| Received:September 14, 2021 Revised:February 16, 2022 Click here to download the full text |
| Citation of this paper:ZHOU Nian-wei,WENG Hao-bo,TIAN Fang-yan,MENG Fang-ming,MA Jing,PAN Cui-zhen,SHU Xian-hong.Identification of a novel MYH7 gene mutation in the Han population associated with familial dilated cardiomyopathy by whole-exome sequencing[J].Chinese Journal of Clinical Medicine,2022,29(2):180-183 |
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| Author Name | Affiliation | E-mail | | ZHOU Nian-wei | Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai Institute of Medical Imaging, Shanghai 200032, China | | | WENG Hao-bo | Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai Institute of Medical Imaging, Shanghai 200032, China | | | TIAN Fang-yan | Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai Institute of Medical Imaging, Shanghai 200032, China | | | MENG Fang-ming | Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai Institute of Medical Imaging, Shanghai 200032, China | | | MA Jing | Shanghai Xuhui District Central Hospital, Shanghai 200032, China | | | PAN Cui-zhen | Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai Institute of Medical Imaging, Shanghai 200032, China | | | SHU Xian-hong | Department of Echocardiography, Zhongshan Hospital, Fudan University, Shanghai Institute of Medical Imaging, Shanghai 200032, China | shu.xianhong@zs-hospital.sh.cn |
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| Abstract:Objective To investigate the pathogenic genes of a family with dilated cardiomyopathy (DCM) by whole-exome sequencing in the Han population. Methods The clinical data were collected from the proband and his family members in Zhongshan Hospital, Fudan University in 2019. Peripheral blood for whole-exome sequencing to find possible pathogenic gene mutations was collected. Sanger sequencing was performed to verify the gene mutation of the proband and the family members. Results The patient and his brother were diagnosed as DCM. Gene sequencing analysis showed that the patient and his brother had a pathogenic gene mutation MYH7 c.2458 G>C (p.Ala820Pro).Consistently, the members who carried this variant showed abnormal cardiac function. The mutation accorded with cosegregation in the family and was found for the first time in the Han population with dilated cardiomyopathy. Conclusion In this study, a variant of MYH7 is identified in DCM family by whole-exome sequencing, and it is a novel variant of dilated cardiomyopathy in Chinese Han population. |
| keywords:dilated cardiomyopathy whole-exome sequencing gene mutation MYH7 gene |
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