De novo mutation (R1117X) in the Shank isoform ProSAP2/Shank3 identified in a patient affected by schizophrenia is responsible for an accumulation of mutated ProSAP2/Shank3 in hippocampal neurons within the nucleus, resulting in an alteration in the transcription of several genes, such as synaptotagmin 1 and leucine-rich repeat transmembrane neuronal protein 1 (LRRTM1) and a reduction in synaptic density [345]. This evidence concerns the gene SHANK2 and schizophrenia.