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PMS most commonly results from heterozygous contiguous gene deletions that include the\n                    <jats:italic>SHANK3<\/jats:italic>\n                    gene or likely pathogenic variants of\n                    <jats:italic>SHANK3<\/jats:italic>\n                    (PMS\u2010\n                    <jats:italic>SHANK3<\/jats:italic>\n                    related). Rarely, chromosomal rearrangements that spare\n                    <jats:italic>SHANK3<\/jats:italic>\n                    share the same general phenotype (PMS\u2010\n                    <jats:italic>SHANK3<\/jats:italic>\n                    unrelated). Very recent human and model system studies of genes that likely contribute to the PMS phenotype point to overlap in gene functions associated with neurodevelopment, synaptic formation, stress\/inflammation and regulation of gene expression. In this review of recent findings, we describe the functional overlaps between\n                    <jats:italic>SHANK3<\/jats:italic>\n                    and six partner genes of 22q13.3 (\n                    <jats:italic>PLXNB2<\/jats:italic>\n                    ,\n                    <jats:italic>BRD1<\/jats:italic>\n                    ,\n                    <jats:italic>CELSR1<\/jats:italic>\n                    ,\n                    <jats:italic>PHF21B<\/jats:italic>\n                    ,\n                    <jats:italic>SULT4A1<\/jats:italic>\n                    , and\n                    <jats:italic>TCF20<\/jats:italic>\n                    ), which suggest a model that explains the commonality between PMS\u2010\n                    <jats:italic>SHANK3<\/jats:italic>\n                    related and PMS\u2010\n                    <jats:italic>SHANK3<\/jats:italic>\n                    unrelated classes of PMS. These genes are likely not the only contributors to neurodevelopmental impairments in the region, but they are the best documented to date. The review provides evidence for the overlapping and likely synergistic contributions of these genes to the PMS phenotype.\n                  <\/jats:p>","DOI":"10.1111\/cge.14503","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T23:55:40Z","timestamp":1709078140000},"page":"459-469","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Evidence for common mechanisms of pathology between\n                    <i>SHANK3<\/i>\n                    and other genes of\n                    <scp>Phelan\u2010McDermid<\/scp>\n                    syndrome"],"prefix":"10.1111","volume":"105","author":[{"given":"Andrew R.","family":"Mitz","sequence":"first","affiliation":[{"name":"Laboratory of Neuropsychology National Institute of Mental Health, National Institutes of Health  Bethesda Maryland 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