He Xuelian, Zhao Peiwei, Huang Yufeng, Cai Xiaonan, Bi Bo, Lin Jun
Precision Medical Laboratory, Tongji Medical College, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Huazhong University of Science and Technology, Wuhan, Hubei 430016, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):157-160. doi: 10.3760/cma.j.issn.1003-9406.2019.02.016.
To carry out genome-wide copy number variations (CNVs) analysis for a boy with autism by using single nucleotide polymorphism array (SNP array).
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.
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.
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.
运用单核苷酸多态性阵列（SNP阵列）对一名自闭症男孩进行全基因组拷贝数变异（CNV）分析。
对该男孩及其父母进行SNP阵列分析，并通过实时PCR对数据进行验证。通过查阅文献分析缺失基因与表型之间的相关性。
发现该患者存在18q22.3q23（7.1 Mb）的末端缺失，涉及FBXO15、ZNF407、ZADH2、TSHZ1、MBP和ADNP2基因。其父母未发现致病性CNV。将该患者与文献报道的病例进行比较，提示ZNF407基因可能是这些患者自闭症表型的原因。
该患者的自闭症表型可能归因于18q缺失，其中ZNF407可能是关键候选基因。SNP阵列已为自闭症潜在分子机制的研究提供了有用工具。
