[通过下一代测序对一名X连锁智力障碍患者的分析]
[Analysis of a patient with X-linked mental retardation by next generation sequencing].
作者信息
Lyu Yuqiang, Yang Yali, Liu Yi, Gai Zhongtao
机构信息
Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):257-260. doi: 10.3760/cma.j.issn.1003-9406.2018.02.025.
OBJECTIVE
To explore the clinical and genetic features of a Chinese boy featuring X-linked mental retardation.
METHODS
Clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted and sequenced by next generation sequencing. The results were validated and analyzed with software.
RESULTS
The child displayed X-linked mental retardation. Sequencing showed the patient has carried a c.455T>C (p.L152P) mutation of the GRIA3 gene inherited from his mother.
CONCLUSION
The c.455T>C (p.L152P) mutation of the GRIA3 gene probably underlies the X-linked mental retardation in this child.
目的
探讨一名患有X连锁智力障碍的中国男孩的临床和遗传特征。
方法
分析患者的临床特征。提取患者及其父母的DNA，采用二代测序进行测序。结果用软件进行验证和分析。
结果
该儿童表现为X连锁智力障碍。测序显示患者携带了从母亲遗传而来的GRIA3基因c.455T>C（p.L152P）突变。
结论
GRIA3基因的c.455T>C（p.L152P）突变可能是该儿童X连锁智力障碍的病因。
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