Over the last two years, remarkable gene discovery efforts have implicated disruption of pathways involving gene regulatory functions and neuronal processes in autism spectrum disorder (ASD), and more broadly defined neurodevelopmental disorders (NDDs). Functional studies in the developing brain and across cell types demonstrate that the spatiotemporal expression patterns of many of these genes coalesce on subnetworks with distinct developmental trajectories. Here, we review the convergent biological processes derived from gene discovery and functional genomics in ASD and NDD from 2018−2020. We further probe the mechanistic insights that suggest these frequently perturbed pathways are interconnected and, ultimately, converge on specific functional deficits in human neurodevelopment.

在过去的两年中，出色的基因发现工作已牵涉到自闭症谱系障碍（ASD）和更广泛定义的神经发育障碍（NDDs）中涉及基因调控功能和神经元过程的通路破坏。在发育中的大脑和跨细胞类型的功能研究表明，许多这些基因的时空表达模式在具有不同发育轨迹的子网络上融合在一起。在这里，我们回顾了从ASD和NDD中的基因发现和功能基因组学衍生的融合生物过程（2018-2020年）。我们进一步探究了机械学的见解，这些见解表明这些经常被扰动的途径是相互联系的，并最终收敛于人类神经发育中的特定功能缺陷。