Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
12 2020
12 2020
Historique:
received:
28
08
2019
accepted:
15
06
2020
revised:
28
05
2020
pubmed:
12
7
2020
medline:
3
6
2021
entrez:
12
7
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32651551
doi: 10.1038/s41431-020-0682-0
pii: 10.1038/s41431-020-0682-0
pmc: PMC7785003
doi:
Substances chimiques
ANK3 protein, human
0
Ankyrins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1726-1733Références
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