Using a systems-level, multi-omics approach, we reveal several genes associated with arachnoid cysts and identify four phenotypic subtypes of arachnoid cysts, the severity of which correlates with the presence of protein-damaging de novo variants. All candidate genes are expressed in the developing brain and encode molecules implicated in chromatin modification or transcriptional regulation.
This is a preview of subscription content, access via your institution
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 per month
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$189.00 per year
only $15.75 per issue
Rent or buy this article
Get just this article for as long as you need it
Prices may be subject to local taxes which are calculated during checkout
Al-Holou, W. N. et al. Prevalence and natural history of arachnoid cysts in children. J. Neurosurg. Pediatr. 5, 578–585 (2010). This paper reports on the presentation and natural history of ACs in a large cohort of children.
Schulz, M. et al. Surgical management of intracranial arachnoid cysts in pediatric patients: radiological and clinical outcome. J. Neurosurg. Pediatr. https://doi.org/10.3171/2020.10.PEDS20839 (2021). This paper reports on outcomes of surgical intervention for ACs and highlights the differential responses of acute and chronic sequelae to surgery.
Qureshi, H. M. et al. Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis. Cereb. Cortex https://doi.org/10.1093/cercor/bhac257 (2022). This review article presents the current known genetic landscape of ACs.
Kaplanis, J. et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757–762 (2020). This paper demonstrates the trio-based genome-wide association study protocol used in our study and highlights the utility of laboratory referral-based cohorts for gene discovery.
Campello, R. J. G. B., Moulavi, D. & Sander, J. in Advances in Knowledge Discovery and Data Mining Vol. 7819 (eds. Pei, J. et al.) 160–172 (Springer, 2013). This paper explains the clustering technique used to generate AC disease classes.
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
This is a summary of: Kundishora, A. J. et al. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts. Nat. Med. https://doi.org/10.1038/s41591-023-02238-2 (2023).
Rights and permissions
About this article
Cite this article
Epigenomic dysregulation correlates with arachnoid cyst formation and neurodevelopmental symptoms. Nat Med (2023). https://doi.org/10.1038/s41591-023-02239-1