{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T11:40:17Z","timestamp":1773402017885,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:italic>SATB2<\/jats:italic>\n                    \u2010Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in\n                    <jats:italic>SATB2<\/jats:italic>\n                    at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing\n                    <jats:italic>SATB2<\/jats:italic>\n                    (\u0394SAS) have been described in the literature. We describe 17 additional individuals with \u0394SAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (\n                    <jats:italic>n<\/jats:italic>\n                    = 50, mean age = 8.5\u2009\u00b1\u20097.8\u2009years), and provide a comprehensive comparison to individuals with other molecular mechanisms that result in SAS (non\u2010\u0394SAS). Individuals in the \u0394SAS group were often underweight for age (20\/41 = 49%) with a progressive decline in weight (95% CI = \u22122.3 to \u22121.1,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001) and height (95% CI = \u22122.3 to \u22121.0,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009&lt;\u20090.0001) Z\u2010score means from birth to last available measurement. \u0394SAS individuals were often noted to have a broad spectrum of facial dysmorphism. A composite image of \u0394SAS individuals generated by automated image analysis was distinct as compared to matched controls and non\u2010\u0394SAS individuals. We also present additional genotype\u2013phenotype correlations for individuals in the \u0394SAS group such as an increased risk for aortic root\/ascending aorta dilation and primary pulmonary hypertension for those individuals with contiguous gene deletions that include\n                    <jats:italic>COL3A1<\/jats:italic>\n                    \/\n                    <jats:italic>COL5A2<\/jats:italic>\n                    and\n                    <jats:italic>BMPR2<\/jats:italic>\n                    , respectively. Based on these findings, we provide additional care recommendations for individuals with \u0394SAS variants.\n                  <\/jats:p>","DOI":"10.1111\/cge.13912","type":"journal-article","created":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T05:22:47Z","timestamp":1609392167000},"page":"547-557","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving\n                    <i>SATB2<\/i>"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8235-6200","authenticated-orcid":false,"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[{"name":"Section of Genetics and Metabolism University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine A.","family":"Bosanko","sequence":"additional","affiliation":[{"name":"Section of Genetics and Metabolism University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Ann","family":"Thomas","sequence":"additional","affiliation":[{"name":"Departments of Medical Genetics and Pediatrics Cumming School of Medicine, University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David T.","family":"Miller","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Cusmano\u2010Ozog","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University Medical Center  Stanford California 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USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna L.","family":"Mitchell","sequence":"additional","affiliation":[{"name":"Department of Genetics and Genome Sciences University Hospitals Center for Human Genetics  Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy M.","family":"DiMarino","sequence":"additional","affiliation":[{"name":"Division of Pediatric Pulmonology UH Rainbow Babies and Children's Hospital  Cleveland Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelika","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics, Medical faculty, University of Tuebingen  Tuebingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1488-3695","authenticated-orcid":false,"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics 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