Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders |
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| Authors: | Ilse M van der Werf Sandra Jansen Petra F de Vries Amber Gerstmans Maartje van de Vorst Anke Van Dijck Bert B A de Vries Christian Gilissen Alexander Hoischen Lisenka E L M Vissers R Frank Kooy Geert Vandeweyer |
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| Institution: | 1.Department of Medical Genetics, University of Antwerp, Antwerp, Belgium ;2.Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands |
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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.Subject terms: Genetics research, Neurological disorders |
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