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Chunk #22 — Discussion

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Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.
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PTCHD1 gene expression showed high correlation with expression of other cerebellar genes such as ZIC1, CADPS2, EN2, CBLN1, and with synaptic genes such as PCLO, NRXN3, SNAP25, SYT2, DPP6 and DPP10 (see table S4). Cerebellar abnormalities have frequently been linked to autism, including recent magnetic resonance imaging (MRI) studies showing significant decrease in cerebellar grey matter (30,31), and decreased cerebellar connectivity and activity (32).