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目的观察肥厚型心肌病(HCM)患者MYBPC3基因Trp1098X突变导致的HCM患者表型和预后特点。方法通过panel二代测序在529例HCM患者中筛查8个编码肌小节蛋白的基因,经Sanger测序验证突变后,分析基因突变所致HCM的表型,并对患者长期随访。结果529例HCM患者中发现2例(0.4%)携带MYBPC3基因Trp1098X突变,该突变位于MYBPC3基因的第30号外显子,第1098位色氨酸(Trp)变成终止密码子(Ter)。两例患者均为男性非梗阻性HCM,临床表现为轻微劳力性呼吸困难、胸痛和心电图ST-T段异常。随访3年,两例患者均病情稳定,无心血管事件发生。结论MYBPC3基因Trp1098X突变能够导致HCM,携带该突变患者具有临床表现较轻。
Objective To observe the phenotype and prognosis of patients with HCM caused by MYBPC3 gene Trp1098X mutation in patients with hypertrophic cardiomyopathy (HCM). Methods A total of 529 HCM patients were screened by panel two-generation sequencing for eight genes encoding for the protein of the muscle segment. After Sanger sequencing, the phenotype of HCM was analyzed and the long-term follow-up was performed. Results Two cases (0.4%) of 529 HCM patients were found to carry the Trp1098X mutation of MYBPC3 gene. This mutation was located on exon 30 of MYBPC3 gene, and Trp at codon 1098 became a stop codon (Ter). Both patients were male non-obstructive HCM with clinical manifestations of mild exertional dyspnea, chest pain, and ST-T abnormalities in the electrocardiogram. After 3 years of follow-up, both patients were stable and had no cardiovascular events. Conclusion The Trp1098X mutation of MYBPC3 gene can cause HCM. The patients with this mutation have a mild clinical manifestation.