[一名自闭症谱系障碍男孩的DIAPH3基因突变分析]
[Analysis of DIAPH3 gene mutation in a boy with autism spectrum disorder].
作者信息
Xie Jiang, Li Hua, Zhu Hua, Huang Li, Li Hongxia, Zhang Xiling, Zhou Yongmei, Zhou Qiang, Xu Wenming
机构信息
The Third People's Hospital of Chengdu, the Second Affiliated Hospital of Chongqing Medical University, Chengdu, Sichuan 610031, China; Department of Obstetrics and Gynecology, Joint Laboratory of Reproductive Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China. Email:
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):481-4. doi: 10.3760/cma.j.issn.1003-9406.2016.04.011.
OBJECTIVE
To analyze the clinical manifestations and gene mutation of a 6 year old boy with autism spectrum disorders (ASD).
METHODS
Peripheral blood of the boy and his parents were subjected to genetic testing.
RESULTS
The patient was diagnosed with typical autism. Exome sequencing has identified mutations of four candidate genes, namely TUT1, DIAPH3, REELIN and SETD2, which were confirmed with Sanger sequencing. Analysis of family members confirmed that the missense mutations of DIAPH3 and SETD2 genes were of de novo origin.
CONCLUSION
Missense mutations of DIAPH3 and SETD2 genes may have contributed to the risk of ASD. Disrupted neurogenesis associated with such mutations may have been the underlying mechanism for ASD.
目的
分析一名6岁自闭症谱系障碍（ASD）男孩的临床表现及基因突变情况。
方法
对该男孩及其父母的外周血进行基因检测。
结果
该患者被诊断为典型自闭症。外显子组测序鉴定出4个候选基因（即TUT1、DIAPH3、REELIN和SETD2）发生突变，经桑格测序得以证实。对家庭成员的分析证实，DIAPH3和SETD2基因的错义突变是新生的。
结论
DIAPH3和SETD2基因的错义突变可能增加了患ASD的风险。与此类突变相关的神经发生紊乱可能是ASD的潜在发病机制。
Zotero 插件