{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T20:10:37Z","timestamp":1787688637996,"version":"build-2784847793"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T00:00:00Z","timestamp":1488844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:p>\n<jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic>\u2010associated syndrome (<jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content>) is a multisystemic disorder caused by alterations of the <jats:italic>\n<jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift, 3 nonsense, and 2 missense) in <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> and review all cases reported in the published literature caused by point alterations thus far. In the cohort here described, developmental delay (DD) with severe speech compromise, facial dysmorphism, and dental anomalies were present in all cases. We also present the third case of tibial bowing in an individual who, just as in the previous 2 individuals in the literature, also had a truncating pathogenic variant of <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic>. We explore early genotype\u2010phenotype correlations and reaffirm the main clinical features of this recognizable syndrome: universal DD with severe speech impediment, mild facial dysmorphism, and high frequency of craniofacial anomalies, behavioral issues, and brain neuroradiographic changes. As the recently proposed surveillance guidelines for individuals with <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content> are adopted by providers, further delineation of the frequency and impact of other phenotypic traits will become available. Similarly, as new cases of <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content> are identified, further exploration of genotype\u2010phenotype correlations will be possible.<\/jats:p>","DOI":"10.1111\/cge.12982","type":"journal-article","created":{"date-parts":[[2017,1,31]],"date-time":"2017-01-31T12:06:28Z","timestamp":1485864388000},"page":"423-429","source":"Crossref","is-referenced-by-count":37,"title":["Genotype and phenotype in 12 additional individuals with <i><scp>SATB2<\/scp><\/i>\u2010associated syndrome"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8235-6200","authenticated-orcid":false,"given":"Y.A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Section of Genetics and Metabolism University of Arkansas for Medical Sciences  Little Rock Arkansas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Kalsner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics 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