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Most of the published reports are limited to children, with little information about the natural history of the disease and the possible novel signs and symptoms or behavioral changes in adulthood. We describe the management and follow-up of a 25-year-old male with SAS due to a de novo heterozygous nonsense variant SATB2:c.715C&gt;T:p.(Arg239*) identified by whole-exome sequencing and review the literature. The case herein described contributes to a better characterization of the natural history of this genetic condition and in addition to the genotype\u2013phenotype correlation of the SATB2:c.715C&gt;T:p.(Arg239*) variant in SAS, highlights some particularities of its management.<\/jats:p>","DOI":"10.3390\/genes14040882","type":"journal-article","created":{"date-parts":[[2023,4,10]],"date-time":"2023-04-10T03:49:29Z","timestamp":1681098569000},"page":"882","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["SATB2-Associated Syndrome Due to a c.715C&gt;T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6320-1243","authenticated-orcid":false,"given":"Matheus de Mello","family":"Copelli","sequence":"first","affiliation":[{"name":"Department of Translational Medicine, Area of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0929-9101","authenticated-orcid":false,"given":"Eleonore","family":"Pairet","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics, de Duve Institute, Universit\u00e9 Catholique de Louvain, 1200 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0547-4913","authenticated-orcid":false,"given":"Milena","family":"Atique-Tacla","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Area of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4027-8341","authenticated-orcid":false,"given":"T\u00e1rsis Paiva","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Area of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5075-4474","authenticated-orcid":false,"given":"Simone","family":"Appenzeller","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, Rheumatology and Traumatology, School of Medical Science, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7046-7867","authenticated-orcid":false,"given":"Rapha\u00ebl","family":"Helaers","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics, de Duve Institute, Universit\u00e9 Catholique de Louvain, 1200 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6236-338X","authenticated-orcid":false,"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics, de Duve Institute, Universit\u00e9 Catholique de Louvain, 1200 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L\u00facia","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Area of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), Campinas CEP 13083-887, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,4,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1136\/jmg.26.2.127","article-title":"Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase","volume":"26","author":"Glass","year":"1989","journal-title":"J. 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