Epigenomic dysregulation correlates with arachnoid cyst formation and neurodevelopmental symptoms

Nat Med. 2023 Mar;29(3):541-542. doi: 10.1038/s41591-023-02239-1.


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.

MeSH terms

  • Arachnoid Cysts* / diagnostic imaging
  • Arachnoid Cysts* / genetics
  • Epigenomics*
  • Humans
  • Magnetic Resonance Imaging