摘要
应用染色体微阵列分析技术(chromosomal microarray analysis,CMA)在全基因组水平对32例不明原因的智力低下或发育迟缓患儿(mental retardation or developmental delay,MR/DD)进行拷贝数变异检测(copy number variations,CNVs),探讨CMA对不明原因MR/DD患儿可能的分子病因诊断的作用,寻求与遗传学相关的致病因素。方法:收集2015年1月~2017年11月到笔者医院初步诊断为MR/DD的32例患儿,利用CytoScan750K芯片检测全基因组CNVs,结合生物信息学分析致病性CNVs。结果:在32例不明原因MR/DD患者中共检测到16例存在CNVs,通过比对数据库8例确认为致病性CNVs,阳性率25%,其中1q21.1缺失综合征1例,Waardenburg综合征1例,Smith-Magenis综合征1例,其他5例携带MR/DD相关的CNVs。结论:CNVs相关的微缺失或微重复是不明原因MR/DD的病因之一,CMA可作为对不明原因MR/DD患儿的病因诊断技术,对深入研究MR/DD病因机制及为患儿预后和家庭再发风险评估都具有重要意义。
To seek related genetic pathogenic factors by screening for genome-wide copy number variations (CNVs) in 32 children with unexplained mental retardation or developmental delay (MR/DD) using high resolution chromosomal microarray analysis, identify rare CNVs (microdeletions/duplications)(which may associate with MR/DD, and evaluate the effectiveness of CMA in clinical molecular diagnosis of children with unexplained MR/DD, seeking genetic factors associated with Genetics. Methods A total of 32 children with unexplained MR/DD were recruited for this study from January in 2015 to November in 2017 in Xijing Hospital. Their genomice CNVs were detected by using CytoScan750K chip, then the pathogenic CNVs were analyzed with bioinformatics tools. Results Rare CNVs were identified on 16 out of 32 children with unexplained MR/DD, which had been analyzed with references from database of genomic variants, the 8 of 32 were considered as pathogenic CNVs, and the positive rate was 25%,3 were associated with known syndromes while the other 5 CNVs were related to MR/DD. Conclusion Microdeletions/microduplications related to the genomic CNVs are demonstrated as one of the cause of unexplained MR/DD. CMA can be used as the diagnostic technique for children with unexplained MR/DD. It is very important to help with in-depth study of the etiology and prognosis of children with unexplained MR/DD, and with the evaluation of the risk of family recurrence.
作者
党颖慧
宋婷婷
万陕宁
郑芸芸
黎昱
陈必良
张建芳
Dang Yinghui;Song Tingting;Wan Shanning(Department of Obstetrics and Gynecology, The First Affiliated Hospital of Air Force Medical University, Shaanxi 710032,China)
出处
《医学研究杂志》
2019年第4期29-33,共5页
Journal of Medical Research
基金
国家“十三五”重点研发计划项目(2016YFC1000703)
关键词
染色体微阵列分析
发育迟缓
智力低下
拷贝数变异
Chromosomal microarray analysis
Developmental delay
Mental retardation
Copy number variations
