Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communication.

doi:10.1038/s41380-026-03685-2

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Article

Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communication.

Molecular psychiatry - 1 Oct 2026

Ko Sangyoon Y, Pastore Stephen F, Park Sungmo, Epp Jonathan R, Mikhailov Anna, French Leon, Harada Hidekiyo, Monnier Philippe P, Hamel Paul A, Josselyn Sheena A, Vincent John B, Frankland Paul W

Abstract excerpt

PTCHD1 is an X-linked three-exon gene associated with autism spectrum disorder (ASD) and/or intellectual disability (ID). Mice lacking Ptchd1 exon 2 (Ptchd1Δexon2) exhibit hyperactivity and learning impairments, but do not recapitulate ASD-like traits. Through mapping of clinically reported loss-of-function mutations in human patients, we determined that PTCHD1 exon 3 is a high-risk locus. We therefore generated...

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Topics

Animals
Social Behavior
Mice
Mice, Knockout
Disease Models, Animal
Autism Spectrum Disorder

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Protein Isoforms

Male

Exons

Autistic Disorder

Membrane Proteins

Humans

Brain

Behavior, Animal

Communication

Mice, Inbred C57BL

Mutation

Female

Source

Open in PubMed

Identifiers

PMID: 42297937
DOI: 10.1038/s41380-026-03685-2

Genes

PTCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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