Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.

Humans Animals Mice Multiomics Arachnoid Cysts / diagnostic imaging Brain / diagnostic imaging Exome / genetics Genetic Testing

Journal

Nature medicine

ISSN: 1546-170X

Titre abrégé: Nat Med

Pays: United States

ID NLM: 9502015

Informations de publication

Date de publication:
03 2023

Historique:

received: 25 05 2022

accepted: 26 01 2023

pubmed: 7 3 2023

medline: 25 3 2023

entrez: 6 3 2023

Statut: ppublish

Résumé

Cerebral arachnoid cysts (ACs) are one of the most common and poorly understood types of developmental brain lesion. To begin to elucidate AC pathogenesis, we performed an integrated analysis of 617 patient-parent (trio) exomes, 152,898 human brain and mouse meningeal single-cell RNA sequencing transcriptomes and natural language processing data of patient medical records. We found that damaging de novo variants (DNVs) were highly enriched in patients with ACs compared with healthy individuals (P = 1.57 × 10

Identifiants

DOI: 10.1038/s41591-023-02238-2 PMID: 36879130

pubmed: 36879130

doi: 10.1038/s41591-023-02238-2

pii: 10.1038/s41591-023-02238-2

doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

Pagination

667-678

Subventions

Organisme : NINDS NIH HHS

ID : R01 NS109358

Pays : United States

Informations de copyright

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