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.

SUBMITTER: van der Werf IM 

PROVIDER: S-EPMC7785003 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature