Investigating the role of the PTCHD1-PTCHD1-AS risk locus in Autism Spectrum Disorder
Clarrisa Bradley, Sangyoon Ko, Lia D'Abate, Jinyeol Lee, Tianyi Lu, Junhui Wang, Xiaolian Fang, Graham Collingridge, Paul Frankland, Stephen Scherer · FENS Forum 2024
Autism Spectrum Disorder (ASD) is a prevalent neurodevelopmental disorder. Individuals with ASD exhibit social communication deficits, sensory differences and display restrictive, repetitive behaviors. Our genomic studies strongly implicate that the PTCHD1 / PTCHD1-AS locus on chromosome X is a penetrant susceptibility locus in males, contributing to autism spectrum disorder and intellectual disability in ~ 1% of cases. Genes at this locus include protein-coding genes PTCHD1, DDX53 and the long non-coding RNA PTCHD1-AS (head-to-head configuration). Characterisation of ASD deletion variants in
ePoster · Neuroscience