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Updated: Dec 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental
Ilse M van der Werf1, Sandra Jansen2, Petra F de Vries2
1Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
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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