全外显子组测序在儿童遗传病诊断中的应用价值

Application value of whole exomo sequencing in diagnosis of hereditary diseases in children

目的 探讨全外显子组测序(WES)在儿童遗传病诊断中的应用价值。方法 选取2019年4月—2022年12月温州市人民医院收治的疑似遗传病或临床诊断不明确的30例患儿为研究对象,采集患儿及其父母静脉血,对患儿进行染色体检查,同时对患儿及其父母进行WES,对检查进行分类,结合患儿临床表现寻找相关致病的变异基因,并进行Sanger测序验证。结果 30例患儿染色体检查均未发现异常,通过WES检测出有基因变异17例(56.7%)。17例基因变异的患儿中,7例(41.2%)为致病性基因变异,3例(17.6%)为可疑致病性基因变异,剩余7例(41.2%)基因变异意义未明。结论 染色体检查作为遗传病的检查手段存在局限性,WES是儿童遗传病分子诊断的重要方法,可在临床决策中发挥关键作用,但WES也有一定局限性,可联合其他分子学方法进行确诊。

Objective To explore the application value of whole exome sequencing(WES)in diagnosis of hereditary diseases in chil-dren.Methods Thirty children with suspected genetic diseases or unclear clinical diagnosis treated in Wenzhou People's Hospital from April 2019 to December 2022 were selected as the research subjects.The venous blood of the children and their parents were collected,and the chromosomes of the children were examined.At the same time,WES of the children and their parents were detected,the test results were classified,and the related variant genes were found according to the clinical manifestations,and verified by Sanger sequencing.Results No abnormality was found in the results of chromosome examination in 30 children,17 cases(56.7%)with gene variation were detected by WES.Among the 17 cases of gene variation,7 cases(41.2%)were pathogenic gene variation,3 cases(17.6%)were suspected pathoge-nicity gene variation,and the significance of gene variation in the remaining 7 cases(41.2%)was unknown.Conclusion Chromosome ex-amination as a means of examination of genetic diseases has limitations.WES is an important method for molecular diagnosis of genetic disea-ses in children,which can play a key role in clinical decision-making,but WES also has some limitations and it can be diagnosed with other molecular methods.