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

European Journal of Human Genetics volume 28, pages 1726–1733 (2020)Cite this article

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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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Authors and Affiliations

  1. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium

    Ilse M. van der Werf, Amber Gerstmans, Anke Van Dijck, R. Frank Kooy & Geert Vandeweyer

  2. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands

    Sandra Jansen, Petra F. de Vries, Maartje van de Vorst, Bert B. A. de Vries, Christian Gilissen, Alexander Hoischen & Lisenka E. L. M. Vissers

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  1. Ilse M. van der Werf
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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 28, 1726–1733 (2020). https://doi.org/10.1038/s41431-020-0682-0

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