P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders

The CSMD1 gene, which stretches across more than 2 Mb of genomic DNA in the distal region of the short (p) arm of chromosome 8 at band 8p23.2, encodes a multi-domain protein that primarily functions in the central nervous system. It has been associated with diverse processes, including neurodevelopment, complement control, and cancer progression. Multiple Genome-Wide Association Studies (GWAS) have pinpointed a specific SNP, namely rs10503253, within intron 3 of CSMD1 as a locus related to schizophrenia.