{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:03:55Z","timestamp":1792782235078,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T00:00:00Z","timestamp":1468368000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Baylor College of Medicine Medical Scientist Training Program","award":["T32GM007330"],"award-info":[{"award-number":["T32GM007330"]}],"id":[{"id":"https:\/\/ror.org\/02pttbw34","id-type":"ROR","asserted-by":"crossref"}]},{"name":"Wintermann Foundation"},{"name":"Baylor Research Advocates for Student Scientists"},{"name":"Texas Department of State Health Services","id":[{"id":"https:\/\/ror.org\/022zknp80","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Haploinsufficiency of\n                      <jats:italic>SATB2<\/jats:italic>\n                      causes cleft palate, intellectual disability with deficient speech, facial and dental abnormalities, and other variable features known collectively as\n                      <jats:italic>SATB2<\/jats:italic>\n                      \u2010associated syndrome. This phenotype was accompanied by osteoporosis, fractures, and tibial bowing in two previously reported adult patients; each possessed\n                      <jats:italic>SATB2<\/jats:italic>\n                      mutations either predicted or demonstrated to escape nonsense\u2010mediated decay, suggesting that the additional bone defects result from a dominant negative effect and\/or age\u2010dependent penetrance. These hypotheses remain to be confirmed, as do the specific downstream defects causing bone abnormalities. We report a\n                      <jats:italic>SATB2<\/jats:italic>\n                      mutation (c.2018dupA; p.(H673fs)) in a 15\u2010year\u2010old patient whose\n                      <jats:italic>SATB2<\/jats:italic>\n                      \u2010associated syndrome phenotype is accompanied by osteoporosis, fractures, progressive tibial bowing, and scoliosis. As this homeodomain\u2010disrupting and predicted truncating mutation resides within the final exon of\n                      <jats:italic>SATB2<\/jats:italic>\n                      , escape from nonsense\u2010mediated decay is likely. Thus, we provide further evidence of bone phenotypes beyond those typically associated with\n                      <jats:italic>SATB2<\/jats:italic>\n                      \u2010associated syndrome in individuals with potential dominant\u2010negative\n                      <jats:italic>SATB2<\/jats:italic>\n                      alleles, as well as evidence for age\u2010dependence of bone features. Elevations in alkaline phosphatase, urinary N\u2010telopeptide\/creatinine ratio, and osteocalcin in the patient indicate increased bone turnover. We propose surveillance and treatment with osteoclast inhibitors to prevent fractures and to slow progressive bone deformities. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37847","type":"journal-article","created":{"date-parts":[[2016,7,13]],"date-time":"2016-07-13T12:34:56Z","timestamp":1468413296000},"page":"3028-3032","source":"Crossref","is-referenced-by-count":19,"title":["Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final\u2010exon\n                    <i>SATB2<\/i>\n                    frameshift mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Philip M.","family":"Boone","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiu Man","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology The Chinese University of Hong Kong Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill V.","family":"Hunter","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis E.","family":"Pottkotter","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nelson A.","family":"Davino","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery UT Health Science Center at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine"},{"name":"Medical Genetics Laboratories Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joke","family":"Beuten","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine"},{"name":"Medical Genetics Laboratories Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine"},{"name":"Texas Children's Hospital Houston Texas"},{"name":"Medical Genetics Laboratories Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084491"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.1603"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.01.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.280"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25393"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1143"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20515"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1345-9"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36769"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006568"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-015-0677-z"},{"key":"e_1_2_5_13_1","unstructured":"US Food and Drug Administration.2014a. 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