外周血MYH7、TNNI3基因突变与家族性肥厚型心肌病发病的关系

发布时间：2018-04-10 14:41

本文选题：肥厚型心肌病 + β肌球蛋白重链　；参考：《山东医药》2017年32期

【摘要】：目的观察1个中国汉族肥厚型心肌病(HCM)家系的基因突变类型,并探讨其对临床表型的影响。方法选择1个中国汉族HCM家系,家系成员共13例,其中5例确诊为HCM。采用新一代高通量测序技术检测先证者外周血44个心肌病靶基因,结果显示其存在β肌球蛋白重链7(MYH7)基因18号外显子Arg663His突变及肌钙蛋白I3(TNNI3)基因7号外显子c.470CT突变。采用双脱氧末端终止法测序检测该家系中其他成员上述两个基因的突变情况,分析不同MYH7、TNNI3基因突变的HCM患者的临床表现。结果先证者与其妹妹均存在MYH7基因18号外显子Arg663His及TNNI3基因7号外显子c.470CT双突变,HCM发病年龄分别为2、1岁;心电图均示异常Q波,ST-T改变,左室高电压;超声心动图均示左房增大,室间隔中段以上最厚处分别为25、23 mm,SAM征阳性,左室流出道压差分别为80、68 mm Hg。先证者的母亲、二舅及外公仅MYH7基因18号外显子Arg663His突变,HCM发病年龄分别为21、19、30岁;心电图均示ST-T改变,左室高电压;超声心动图均示室间隔增厚,最厚处分别为16、18、18 mm,SAM征阴性,无左室流出道梗阻。先证者表弟仅MYH7基因18号外显子Arg663His突变,临床无明显症状,心电图及超声心动图检查无异常。结论该汉族HCM家系TNNI3基因发生从头突变,MYH7基因突变由遗传而来;MYH7与TNNI3基因双突变者HCM发病时间早、临床症状严重、预后较差。
[Abstract]:Objective to observe the mutation type of HCM gene in a Chinese Han nationality family with hypertrophic cardiomyopathy (HCM) and to explore its effect on clinical phenotype.Methods A Chinese Han HCM pedigree of 13 cases was selected, of which 5 cases were diagnosed as HCM- positive.The mutations of the two genes mentioned above in other members of the family were detected by dideoxyterminal sequencing. The clinical manifestations of HCM patients with different MYH7 / TNNI3 gene mutations were analyzed.Results both the proband and his sister had MYH7 gene exon 18 Arg663His and TNNI3 gene exon 7 c.470CT double mutation. The onset age of Arg663His was 21 years, ECG showed abnormal Q wave ST-T change, left ventricular high voltage, echocardiography showed left atrial enlargement.Above the middle part of ventricular septum, 2523 mm SAM sign was positive, and the pressure difference of left ventricular outflow tract was 80 ~ 68mm Hg.No obstruction of left ventricular outflow tract.The proband cousin only had Arg663His mutation in exon 18 of MYH7 gene, no obvious clinical symptoms, no abnormal electrocardiogram and echocardiography.Conclusion the TNNI3 gene mutation of the HCM family of this Han nationality is inherited from ab initio mutation. The patients with both MYH7 and TNNI3 gene mutations have early onset time, severe clinical symptoms and poor prognosis.
【作者单位】：郑州大学第五附属医院;河南省胸科医院;
【基金】：河南省医学科技攻关计划项目(201002022)
【分类号】：R542.2

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