{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T11:40:09Z","timestamp":1773402009248,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,4,17]],"date-time":"2015-04-17T00:00:00Z","timestamp":1429228800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>The <jats:italic>SATB2<\/jats:italic>\u2010associated syndrome (SAS) was recently proposed as a clinically recognizable syndrome that results from deleterious alterations of the <jats:italic>SATB2<\/jats:italic> gene in humans. Although interstitial deletions at 2q33 encompassing <jats:italic>SATB2<\/jats:italic>, either alone or contiguously with other genes, have been reported before, there is limited literature regarding intragenic mutations of this gene and the resulting phenotype. We describe five patients in whom whole exome sequencing identified five unique de novo mutations in the <jats:italic>SATB2<\/jats:italic> gene (one splice site, one frameshift, and three nonsense mutations). The five patients had overlapping features that support the characteristic features of the SAS: intellectual disability with limited speech development and craniofacial abnormalities including cleft palate, dysmorphic features, and dental abnormalities. Furthermore, Patient 1 also had features not previously described that represent an expansion of the phenotype. Osteopenia was seen in two of the patients, suggesting that this finding could be added to the list of distinctive findings. We provide supporting evidence that analysis for deletions or point mutations in <jats:italic>SATB2<\/jats:italic>  should be considered in children with intellectual disability and severely impaired speech, cleft or high palate, teeth abnormalities, and osteopenia. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36849","type":"journal-article","created":{"date-parts":[[2015,4,17]],"date-time":"2015-04-17T11:31:20Z","timestamp":1429270280000},"page":"1026-1032","source":"Crossref","is-referenced-by-count":49,"title":["Further supporting evidence for the <i>SATB2<\/i>\u2010associated syndrome found through whole exome sequencing"],"prefix":"10.1002","volume":"167","author":[{"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Section of Genetics and Metabolism University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hazel","family":"Perry","sequence":"additional","affiliation":[{"name":"Division of Craniofacial Anomalies University of California San Francisco Department of Orofacial Sciences San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tawfeg","family":"Ben\u2010Omran","sequence":"additional","affiliation":[{"name":"Clinical and Metabolic Genetics Department of Pediatrics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Sellars","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quinn","family":"Stein","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Neurology &amp; Genetics Sanford Children's Specialty Clinic Sanford Children's Hospital Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam","family":"Almureikhi","sequence":"additional","affiliation":[{"name":"Clinical and Metabolic Genetics Department of Pediatrics Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirk","family":"Simmons","sequence":"additional","affiliation":[{"name":"Deparment of Dentistry University of Arkansas for Medical Sciences Little Rock Arkansas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ophir","family":"Klein","sequence":"additional","affiliation":[{"name":"Division of Craniofacial Anomalies University of California San Francisco Department of Orofacial Sciences San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Fish","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery University of California San Francisco San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murray","family":"Feingold","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Feingold Center Boston Children's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica","family":"Douglas","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Feingold Center Boston Children's Hospital Boston Massachusetts"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael C.","family":"Kruer","sequence":"additional","affiliation":[{"name":"Divisions of Pediatric Neurology &amp; Genetics Sanford Children's Specialty Clinic Sanford Children's Hospital Sioux Falls South Dakota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Si","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Genomics ARUP Laboratories Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rong","family":"Mao","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Genomics ARUP Laboratories Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dianalee","family":"McKnight","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federica","family":"Gibellini","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyle","family":"Retterer","sequence":"additional","affiliation":[{"name":"GeneDx Gaithersburg Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Francisco San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10059-010-0128-6"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.12.012"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084491"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2005.03897.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/508214"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.05.012"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.280"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-142X.2011.00511.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg248"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20515"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1345-9"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt647"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006568"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<177::AID-AJMG15>3.0.CO;2-9"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22483"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01145.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.06.003"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1089\/ten.tea.2010.0503"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2013.12.010"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36849","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36849","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:54:14Z","timestamp":1696596854000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36849"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,17]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1002\/ajmg.a.36849"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36849","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,17]]}}}