拷贝数变异分析对于不明原因智力障碍/发育迟缓患儿的诊断价值  

Value of copy number variation analysis and chromosomal karyotyping for the diagnosis of children with intellectual disability/developmental delay

作　　者：林敏[1] 薛会丽[1] 王燕[1] 黄海龙[1] 扶梅妹[1] 郭南[1] 徐两蒲[1] Lin Min;Xue Huili;Wang Yan;Huang Hailong;Fu Meimei;Guo Nan;Xu Liangpu(Center of Prenatal Diagnosis,Fujian Provincial Maternity and Child Health Care Hospital,Fuzhou,Fujian 350001,China)

机构地区：[1]福建省妇幼保健院,福建省产前诊断与出生缺陷重点实验室,福州350001

出　　处：《中华医学遗传学杂志》2021年第3期228-231,共4页Chinese Journal of Medical Genetics

基　　金：福建省自然科学基金(2017J01238);福建省妇幼保健院青年科学基金项目(妇幼YCXQ 18-14)。

摘　　要：目的评估拷贝数变异(copy number variations,CNVs)分析在智力障碍/发育迟缓(intellectual disability/developmental delay,ID/DD)患者遗传学病因诊断中的价值。方法对2015年1月至2019年12月本院确诊为ID/DD的530例患儿进行核型分析,对不能明确病因的120例核型正常或核型异常患儿应用单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP-array)技术进行CNVs检测。结果530例ID/DD患儿中检出染色体异常104例,染色体异常检出率19.62%;120例患儿中检出CNVs 44例,检出率36.67%,其中致病性CNVs 20例,检出率16.67%,可能致病性CNVs 6例,临床意义不明CNVs 10例,可能良性CNVs 7例,杂合性丢失(loss of heterozygosity,LOH)1例。结论SNP-array可提高不明原因ID/DD患者的病因诊断率,为其预后咨询、早期干预及再发风险提供依据。Objective To assess the value of copy number variations(CNVs)and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay(ID/DD).Methods Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD.Single nucleotide polymorphism array(SNP-array)was further used in 120 children with unknown etiology.Results Among the 530 children with ID/DD,104(19.62%)were detected with chromosomal abnormalities.For the 120 children analyzed by SNP-array,44(36.67%)were detected with CNVs,among which 20 were predicted as pathogenic,6 as likely pathogenic,10 as variants of unknown significance,7 as likely benign,and 1 as loss of heterozygosity.Conclusion SNP-array can facilitated elineation of the etiology of patients with ID/DD,which may provide a basis for their prognosis,consultation and intervention.

关 键 词：智力障碍 发育迟缓 单核苷酸多态性微阵列 拷贝数变异 

分 类 号：R749.94[医药卫生—神经病学与精神病学]