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.
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References
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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).
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Epigenomic dysregulation correlates with arachnoid cyst formation and neurodevelopmental symptoms. Nat Med 29, 541–542 (2023). https://doi.org/10.1038/s41591-023-02239-1
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DOI: https://doi.org/10.1038/s41591-023-02239-1
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