Identification of a novel MYH7 gene mutation in the Han population associated with familial dilated cardiomyopathy by whole-exome sequencing

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.

Conclusions 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.