MYBPC3基因p.Ile852Val突变与家族性肥厚型心肌病的相关性研究

目的:MYBPC3基因突变是肥厚性心肌病(HCM)的常见原因,本研究对导致HCM的一种新型的MYBPC3基因突变进行研究。方法:纳入了1例HCM患者及其家系中的8个亲属,同时纳入13名健康志愿者作为对照。对HCM患者家系及对照组成员进行基因测序,同时对HCM患者家系进行谱系分析、临床评估和基因分型。结果:在患者家系中,患者母亲及外祖父为肥厚型心肌病患者,基因测序发现患者及该2名亲属均存在MYBPC3基因p.Ile852Val杂合突变,其余5名亲属及健康对照组均无此突变。患者及其母亲临床症状相对较轻,但表现并不相同,外祖父长期卧床,症状较重,有严重胸闷气喘,在研究过程中猝死。结论:MYBPC3基因p.Ile852Val杂合突变与肥厚型心肌病相关,该突变为一种新型的导致HCM的基因突变,且携带该突变的HCM患者临床症状存在一定差异性。

The correlation between p.Ile852Val mutation of MYBPC3 and familial hypertrophic cardiomyopathy

Objective: The gene mutation of MYBPC3 gene is one of the common causes of hypertrophic cardiomyopathy(HCM). The aim of this study is to investigate a new gene mutation of MYBPC3 gene leading to HCM. Methods: In this study, one HCM patient and 8 relatives of his family were included while 13 healthy volunteers were included as controls. Gene sequencing was carried out for HCM patients′ families and control group. Pedigree analysis, clinical evaluation and genotyping were performed for HCM patients′ families. Results: In the proband’s family, his mother and grandfather were patients with HCM. The gene sequencing showed that the proband and the two relatives had p.ile852 val heterozygous mutation of MYBPC3 gene while the other five relatives and the healthy controls had no such mutation. The clinical symptoms of the proband and his mothers were relatively mild. However, the manifestations were not the same. The grandfather was in bed for a long time with severe symptoms like severe chest distress and asthma. He died suddenly in the course of the study. Conclusions: The p.ile852 val heterozygous mutation of MYBPC3 gene is related to HCM, which is a new gene mutation. The clinical symptoms of HCM patients carrying this mutation are different.