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Epigenomic dysregulation correlates with arachnoid cyst formation and neurodevelopmental symptoms

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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Fig. 1: AC-associated genes and phenotypic groupings.


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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. (2023).

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Epigenomic dysregulation correlates with arachnoid cyst formation and neurodevelopmental symptoms. Nat Med (2023).

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