心脏型肌球蛋白结合蛋白CG416S突变导致肥厚型心肌病

Mutation G416S in Cardiac Myosin-binding Protein C Was Associated with Hypertrophic Cardiomyopathy

目的观察肥厚型心肌病(HCM)患者心脏型肌球蛋白结合蛋白CG416S突变导致肥厚型心肌病的特点。方法在100例HCM患者中对心脏型肌球蛋白结合蛋白C基因(MYBPC3)的所有外显子及其侧翼内含子序列进行基因扫描,聚合酶链反应(PCR)扩增目的片段,双脱氧末段终止法测序。分析携带基因突变患者的表型特点。结果在一例患者中发现MYBPC3第8697G>A基因突变,该突变位于外显子15,造成了心脏型肌球蛋白结合蛋白C第416位的甘氨酸转变成丝氨酸(G416S),该位置位于保守区。患者65岁时出现活动后胸痛不适,无高危因素。结论心脏型肌球蛋白结合蛋白CG416S错义突变能够导致HCM,携带该突变的患者表型轻、预后好。

Objective To describe the characteristics of hypertrophic cardiomyopathy associated with G416S mutation in cardiac myosin- binding protein C. Methods A systematic mutation screening of the whole exons and the adjacent introns of MYBPC3 gene was perfbrmed in 100 unrelated Chinese adult patients with HCM using direct DNA sequencing. The phenotype of the HCM patients was analyzed. Results A mutation （8697G〉A） located in the exon 15 of MYBPC3 was identified in a patient with HCM, which caused the reserved amino acid of Gln416 was changed to Ser. The patient expressed dyspnea or chest pain on exertion at 65 years of old without any identified high risk factors. Conclusion Mutation of G416S in cardiac myosin-binding protein C maybe caused HCM with benign outcome.