{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T12:44:24Z","timestamp":1768567464071,"version":"3.49.0"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,1,19]],"date-time":"2016-01-19T00:00:00Z","timestamp":1453161600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003710","name":"Korea Health Industry Development Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003710","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:p>The <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>) was proposed recently, after the <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high\u2010arched palate, and dentition problems. Here, we describe two novel <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> sequence variants in two unrelated patients presenting with Rett\u2010like phenotypes. We performed trio\u2010based whole\u2010exome sequencing in a 17\u2010month\u2010old girl presenting with severe retardation and Rett\u2010like phenotypes, which revealed a <jats:italic>de novo<\/jats:italic> missense variant in <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> (p.<jats:styled-content style=\"fixed-case\">Glu396Gln<\/jats:styled-content>). Moreover, targeted sequencing of the <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> gene was performed in a 2\u2010year\u2010old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome. A nonsense variant in <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> was identified in this patient (p.Arg459*). This study expanded the clinical and genetic spectrum of <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content>. <jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic> variants should be considered in cases with psychomotor retardation alone or in any cases with Rett\u2010like phenotypes, regardless of the typical features of <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content> such as cleft palate.<\/jats:p>","DOI":"10.1111\/cge.12698","type":"journal-article","created":{"date-parts":[[2015,11,24]],"date-time":"2015-11-24T07:48:55Z","timestamp":1448351335000},"page":"728-732","source":"Crossref","is-referenced-by-count":34,"title":["<i>SATB2<\/i>\u2010associated syndrome presenting with Rett\u2010like phenotypes"],"prefix":"10.1111","volume":"89","author":[{"given":"J.S.","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics Gachon University Gil Medical Center  Incheon South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.C.","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.J.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital Seoul National University College of Medicine  Seoul South 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