Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

Abstract

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.

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Fig. 1: Schematic overview of the ANK3 protein-protein interaction network members.

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Acknowledgements

This work was sponsored by a grant from the Fonds Wetenschappelijk Onderzoek - Vlaanderen (FWO) to RFK and GVDW and by a grant from the Netherlands Organization for Health Research and Development (912-12-109) to LELMV and BBAdV.

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Correspondence to Geert Vandeweyer.

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van der Werf, I.M., Jansen, S., de Vries, P.F. et al. Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders. Eur J Hum Genet (2020). https://doi.org/10.1038/s41431-020-0682-0

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