Whole exome sequencing and copy‐number variant analysis was performed on a family with three brothers diagnosed with autism. Each of the siblings shares an alteration in the nuclear receptor subfamily 3 group C member 2 (NR3C2) gene that is predicted to result in a stop‐gain mutation (p.Q919X) in the mineralocorticoid receptor (MR) protein. This variant was maternally inherited and provides further evidence for a connection between the NR3C2 and autism. Interestingly, the NR3C2 gene encodes the MR protein, a steroid hormone‐regulated transcription factor that acts in the hypothalamic–pituitary–adrenal axis and has been connected to stress and anxiety, both of which are features often seen in individuals with autism. Autism Res 2020, 13: 523–531. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.

中文翻译：

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自闭症的三个兄弟在HPA轴基因NR3C2中进行了终止增益突变。

整个外显子组测序和拷贝数变异分析是在一个家庭中进行的，三个兄弟被诊断出患有自闭症。每个兄弟姐妹在核受体亚家族3组C成员2（NR3C2）基因中都有一个改变，该改变预计会导致盐皮质激素受体（MR）蛋白的终止增益突变（p.Q919X）。该变体是母系遗传的，并为NR3C2与自闭症之间的联系提供了进一步的证据。有趣的是，NR3C2基因编码MR蛋白，一种类固醇激素调节的转录因子，作用于下丘脑-垂体-肾上腺轴，并与压力和焦虑有关，这两者都是自闭症患者经常出现的特征。Autism Res 2020，13：523-531。©2020国际自闭症研究协会，Wiley Periodicals，Inc.。