Topic: PTCHD1

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

Neurodevelopmental disorders (NDDs) are prevalent neurodevelopmental conditions which affected 3% of general population without effective treatment so far. Among the NDD candidate genes, mutations in PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked Intellectual Disability (ID) and Autism Spectrum Disorders (ASD). The aim of the study is deciphering the molecular and cellular role of PTCHD1 in brain development and understanding its pathological impact leading to NDD.To dissect the molecular mechanisms allowing PTCHD1 receptor interactions at synapse,