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

Eur J Hum Genet. 2020 Dec;28(12):1726-1733. doi: 10.1038/s41431-020-0682-0. Epub 2020 Jul 10.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ankyrins / genetics*
  • Ankyrins / metabolism
  • Databases, Genetic
  • Gene Regulatory Networks*
  • Humans
  • Neurodevelopmental Disorders / genetics*
  • Polymorphism, Genetic*
  • Protein Interaction Maps*


  • ANK3 protein, human
  • Ankyrins