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全外显子组测序鉴定汉族人群扩张型心肌病新的MYH7基因突变

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

    摘要
  • 摘要:
    目的 采用全外显子组测序筛查中国汉族人群扩张型心肌病患者家系的致病基因。
    方法 收集2019年复旦大学附属中山医院收治的1例扩张型心肌病患者及其家系成员的临床资料, 采集外周血进行全外显子组测序分析, 寻找可能的致病基因突变并采用Sanger测序进一步验证。
    结果 患者及其哥哥经我院确诊为扩张型心肌病。家系成员基因测序分析发现, 患者及其哥哥存在致病基因突变MYH7 c.2458G>C (p.Ala820Pro), 携带该突变位点的家族成员的心功能表现异常, 突变位点在家系内符合基因表型共分离关系, 该位点在汉族扩张型心肌病人群中首次发现。
    结论 本研究采用全外显子组测序技术首次鉴定发现MYH7 c.2458G>C (p.Ala820Pro)为中国汉族人群扩张型心肌病家系的致病基因突变位点。

     

    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.
    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.

     

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