Disruption of chromatin structure due to epimutations is a leading genetic etiology of neurodevelopmental disorders, collectively known as chromatinopathies. We show that there is an increasing level of convergence from the high diversity of genes that are affected by mutations to the molecular networks and pathways involving the respective proteins, the disrupted cellular and subcellular processes, and their consequence for higher order cellular network function. This convergence is ultimately reflected by specific phenotypic features shared across the various chromatinopathies. Based on these observations, we propose that the commonly disrupted molecular and cellular anomalies might provide a rational target for the development of symptomatic interventions for defined groups of genetically distinct neurodevelopmental disorders.

中文翻译：

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神经发育障碍中惊人的表观基因组。

由于表观突变引起的染色质结构破坏是神经发育障碍的主要遗传病因，统称为染色质病。我们表明，从受突变影响的基因的高度多样性到涉及相应蛋白质的分子网络和途径、被破坏的细胞和亚细胞过程以及它们对更高阶细胞网络功能的影响，趋同程度越来越高。这种融合最终反映在各种染色质病共有的特定表型特征上。基于这些观察，我们提出，通常被破坏的分子和细胞异常可能为针对遗传上不同的神经发育障碍的定义组开发对症干预提供合理的目标。