小儿特发性心肌病91个心肌病相关基因检测分析

Analysis of gene mutation in children with cardiomyopathy

目的研究特发性心肌病患儿中91个心肌病相关基因的基因突变情况。方法广东省人民医院2015年1月至2017年3月收治的43例无血缘关系的特发性心肌病患儿(扩张型心肌病14例,肥厚型心肌病12例,左室心肌致密化不全17例),运用二代测序法对心肌病相关基因进行测序,其直系亲属用sanger测序法对已经发现的突变位点进行检测,分析突变位点特点,探讨突变位点与临床表型的关系。结果共发现20例(46.5%)存在23个基因上的28个致病及可疑致病突变位点,突变位点未见重复,其突变方式主要为错义突变,占50.0%。2例患儿同时检测到1个基因的2个致病突变或可疑致病突变。19例(44.1%)检测到临床意义未明的突变位点。结论小儿特发性心肌病患者部分可检测到心肌病相关基因突变,心肌病相关基因的检测可以协助临床诊断,部分基因突变的位点与病变程度相关,对携带突变位点的特发性心肌病患儿家族应进行长期追踪随访。

Objective To study the well-related cardiomyopathy genes in children with cadiomyopathy living in south china. Methods 43 childrens with cardiomyopathy admitted to Guangdong General Hospital between January 2015 to March 2017 were enrolled in this study. A standardized protocol for ultra-high coverage next- generation sequencing of the well-related cardiomyopathy genes were performed in all patients. A sequencing of Sanger were used to their immediate family members. Results A total of 28 mutations of pathogenic and suspect- ed pathogenic in 23 genes were identified in 21 patients （48.8%）. All of the mutations occurred only once. Conclu- sions Most cases with eardiomyopathy have gene mutations. The sequencing of the well-related eardiomyopathy genes can assist the clinical diagnosis. And many variants which the test detected need to be followed-up in order to gain benefit for the Datients and their families.