Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders,American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

当前位置： X-MOL 学术 › Am. J. Med. Genet. B Neuropsychiatr. Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 1.6 ) Pub Date : 2020-09-15 , DOI: 10.1002/ajmg.b.32821
Yijia Zhang ₁ , Ruochen Wang ₂ , Zhenwei Liu ₂ , Shan Jiang ₂ , Lifeng Du ₂ , Kairui Qiu ₂ , Fengxia Li ₂ , Qiongdan Wang ₂ , Jing Jin ₂ , Xiaomin Chen ₂ , Zhongshan Li ₂ , Jinyu Wu ₂ , Na Zhang _{2,

3}

Affiliation

Neurodevelopmental disorders, including autism spectrum disorder (ASD), intellectual disability (ID), developmental disorders (DD) and epileptic encephalopathy (EE), have a strong clinical comorbidity, which indicates a common genetic etiology across various disorders. However, the underlying genetic mechanisms of comorbidity and specificity remain unknown across neurodevelopmental disorders. Based on de novo mutations, we compared systematically the functional characteristics between shared and unique genes under these disorders, as well as the spatiotemporal trajectory of development in brain and common molecular pathways of all shared genes. We observed that shared genes present more constrained against functional rare genetic variation, and harbor more pathogenic rare variants than do unique genes in each disorder. Furthermore, 71 shared genes formed two clusters related to synaptic transmission, transcription regulation and chromatin regulator. Particularly, we also found that two core genes STXBP1 and SCN2A, that were shared by the four neurodevelopmental disorders showed prominent pleiotropy. Our findings shed light on the shared and specific patterns across neurodevelopmental disorders and will enable us to further comprehend the etiology and provide valuable information for the diagnosis of neurodevelopmental disorders.

更新日期：2020-09-15

点击分享查看原文

点击收藏

阅读更多本刊最新论文