[一名重度智力障碍儿童中ARX基因c.1A>G起始密码子变异的鉴定]
[Identification of a c.1A>G initial codon variation of ARX gene in a child with severe mental retardation].
作者信息
Shen Xueping, Qi Fengfeng, Gu Chunjian
机构信息
Huzhou Maternity and Child Health Care Hospital, Huzhou, Zhejiang 313000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):131-134. doi: 10.3760/cma.j.issn.1003-9406.2020.02.007.
OBJECTIVE
To explore the genetic basis for a child featuring severe mental retardation.
METHODS
The child was subjected to target region capture and next generation sequencing. Suspected variants were verified by Sanger sequencing.
RESULTS
The child was found to harbor a hemizygous c.1A>G (pMet1?) variation of the ARX gene, for which his mother was a heterozygous carrier. The mutation was unreported previously and was predicted to be "probably pathogenic" by bioinformatic analysis.
CONCLUSION
The c.1A>G (pMet1?) variant of the ARX gene may underlie the occurrence of severe mental retardation in this child.
目的
探究一名患有严重智力障碍儿童的遗传基础。
方法
对该儿童进行靶向区域捕获和二代测序。通过桑格测序验证疑似变异。
结果
发现该儿童携带ARX基因的半合子c.1A>G（pMet1?）变异，其母亲为该变异的杂合子携带者。该突变此前未见报道，经生物信息学分析预测为“可能致病”。
结论
ARX基因的c.1A>G（pMet1?）变异可能是该儿童发生严重智力障碍的原因。
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