De novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes.

PubMed 2026 Preprint Open access

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Authors: Ketrin Gjoni, Xingjie Ren, Amanda Everitt, Yin Shen, Katherine S. Pollard
DOI: 10.1101/gr.280394.124
Cited by: 1
References: 55

Abstract

-regulatory element interactions (CREints) are more disrupted by dnSVs from ASD probands versus unaffected siblings. We prioritize candidate variants that disrupt ASD CREints and validate our top-ranked locus using isogenic excitatory neurons with and without the dnSV, confirming accurate predictions of disrupted chromatin contacts. This study suggests that disrupted genome folding is a potential genetic mechanism in a subset of ASD cases and provides a general strategy for prioritizing variants predicted to disrupt regulatory interactions across tissues.

Fields of Study & Subjects

Genomics and Chromatin Dynamics Autism Spectrum Disorder Research Genomic variations and chromosomal abnormalities

Publication details

Journal / source
PubMed
Publisher
Cold Spring Harbor Laboratory
Volume
36
Issue
9
Pages
1825–1835
Publication date
1 September 2026
Language
EN
Document type
Preprint