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May 13, 2026

Non-coding gene linked to core social and behavioural traits in autism: Toronto study

Nature study implicates PTCHD1-AS in Autism’s core features, opening a new window into its biological roots

Scherer_Bradley_Collingridge
From left: Steve Scherer, Lisa Bradley, Graham Collingridge

A long‑overlooked stretch of the human genome appears to play a distinct role in shaping the social and stereotypic repetitive behaviours that define autism spectrum disorder (ASD), without affecting learning or other cognitive abilities, according to a major new study published in Nature

A research team led by The Hospital for Sick Children (SickKids) and the University of Toronto, funded in part by the McLaughlin Centre, has pinpointed PTCHD1-AS, a long non-coding RNA gene on the X chromosome, as a contributor to increased likelihood of ASD in males. Notably, deletions within PTCHD1-AS influence social interaction and repetitive behaviours, while leaving cognition unaffected. READ MORE.