The phenomenal epigenome in neurodevelopmental disorders
SourceHuman Molecular Genetics, 29, R1, (2020), pp. R42-r50
Article / Letter to editor
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Human Molecular Genetics
SubjectRadboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
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.
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