biostudies-literatureUnknown28(12)van der Werf IMUpon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders.European journal of human genetics : EJHG1726-1733https://www.ebi.ac.uk/biostudies/studies/S-EPMC7785003biostudies-literatureOverrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.PMC7785003Vissers LELMde Vries BBAde Vries PFJansen SHoischen AGilissen CKooy RFVandeweyer GGerstmans Avan de Vorst Mvan der Werf IMVan Dijck AfalseOverrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.Upon the discovery of numerous genes involved in the pathogenesis of neurodevelopmental disorders, several studies showed that a significant proportion of these genes converge on common pathways and protein networks. Here, we used a reversed approach, by screening the AnkyrinG protein-protein interaction network for genetic variation in a large cohort of 1009 cases with neurodevelopmental disorders. We identified a significant enrichment of de novo potentially disease-causing variants in this network, confirming that this protein network plays an important role in the emergence of several neurodevelopmental disorders.2020-01-01T00:00:00Z2020 Dec2026-05-09T01:33:06.186Z2022-02-11T13:17:58.179ZS-EPMC77850033265155110.1038/s41431-020-0682-0