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The patient presented with intellectual developmental disorder, treatment\u2010resistant schizophrenia (SCZ), and multiple congenital anomalies. Despite aggressive pharmacotherapy, she experienced persistent auditory hallucinations and negative symptoms. WGS revealed a 3\u2009Mb deletion at 22q11.2 and a nonsense variant in\n                    <jats:italic>MAP1A<\/jats:italic>\n                    (c.4652T&gt;G, p.Leu1551*).\n                    <jats:italic>MAP1A<\/jats:italic>\n                    , encoding microtubule\u2010associated protein 1A, is crucial for axon and dendrite development and has been implicated in autism spectrum disorder and SCZ. The\n                    <jats:italic>MAP1A<\/jats:italic>\n                    variant may contribute to the severe psychiatric phenotype, as it is thought to influence synaptic plasticity, a process also affected by 22q11.2 deletion. This case highlights the importance of WGS in identifying additional pathogenic variants that may explain phenotypic variability in 22q11.2DS. Thus, WGS can lead to a better understanding of the genetic architecture of 22q11.2DS. However, further studies are needed to elucidate the role of secondary genetic contributors in the diverse clinical presentations of 22q11.2DS.\n                  <\/jats:p>","DOI":"10.1002\/npr2.12477","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T06:35:11Z","timestamp":1724740511000},"page":"847-851","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Treatment\u2010resistant schizophrenia with 22q11.2 deletion and additional genetic defects"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2558-5853","authenticated-orcid":false,"given":"Sawako","family":"Furukawa","sequence":"first","affiliation":[{"name":"Department of Psychiatry Nagoya University Graduate School of Medicine  Nagoya Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shusei","family":"Arafuka","sequence":"additional","affiliation":[{"name":"Department of 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