摘要目的 应用单核苷酸多态性微阵列技术对一例不明原因的孤独症患儿进行全基因组拷贝数变异分析.方法 对患儿及其父母进行拷贝数变异分析,用定量PCR进行验证,并分析缺失片段所包含的基因的功能与临床表型的关系.结果 微阵列检测发现患儿18号染色体长臂末端(18q22.3q23区)存在7.1 Mb的缺失(hg39:70 650 318-78 014 582),涉及FBXO15、ZNF407、ZADH2、TSHZ1、MBP、ADNP2等26个基因,其父母未见同样的异常.将患儿与文献报道的其他有孤独症表型的18q缺失的病例进行比较,提示ZNF407可能是引起孤独症表型的关键基因.结论 本例患儿的孤独症表型与18号染色体微缺失有关,该区域内的ZNF407可能是导致孤独症表型的关键基因.全基因组拷贝数变异分析对明确孤独症的遗传学病因具有重要的价值.

abstractsObjective To carry out genome-wide copy number variations (CNVs) analysis for a boy with autism by using single nucleotide polymorphism array (SNP array).Methods SNP array analysis was conducted for the boy and his parents,and the data was validated by real-time PCR.Correlation between the deleted genes and the phenotype was analyzed by reviewing the literature.Results The patient was found to carry a terminal deletion of 18q22.3q23 (7.1 Mb),which involved FBXO15,ZNF407,ZADH2,TSHZ1,MBP and ADNP2 genes.No pathogenic CNVs were found in the parents.Comparison of the patient with cases reported in the literature suggested that the ZNF407 gene probably accounts for the autistic phenotype in these patients.Conclusion The autistic phenotype of the patient may be attributed to the 18q deletion,for which ZNF407 may be a critical candidate.SNP array has provided an useful tool for the study of molecular mechanism underlying autism.