{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T12:05:17Z","timestamp":1773835517998,"version":"3.50.1"},"reference-count":7,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loeys\u2013Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in LDS. Two previous reports present a total of four patients with LDS due to pure 1q41 deletions involving <jats:italic>TGFB2<\/jats:italic> (Gaspar et al., American Journal of Medical Genetics Part A, 2017, 173, 2289\u20132292; Lindsay et al., Nature Genetics, 2012, 44, 922\u2013927). The current report describes an additional five patients with similar deletions. Seven of the nine patients present with some degree of hypotonia and gross motor delay, and three of the nine present with speech delay and\/or intellectual disability (ID). The smallest deletion common to all patients is a 785\u2009kb locus that contains two genes: <jats:italic>RRP15<\/jats:italic> and <jats:italic>TGFB2<\/jats:italic>. Previous studies report that <jats:italic>TGFB2<\/jats:italic> knockout mice exhibit severe perinatal anomalies (Sanford et al., Development, 1997, 124, 2659\u20132670) and <jats:italic>TGFB2<\/jats:italic> is expressed in the embryonic mouse hindbrain floor (Chleilat et al., Frontiers in Cellular Neuroscience, 2019, 13). The deletion of <jats:italic>TGFB2<\/jats:italic> may be associated with a neurodevelopmental phenotype with incomplete penetrance and variable expression.<\/jats:p>","DOI":"10.1002\/ajmg.a.62758","type":"journal-article","created":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T10:22:16Z","timestamp":1650018136000},"page":"2237-2241","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["<scp>Loeys\u2013Dietz<\/scp> syndrome caused by 1q41 deletion including <scp><i>TGFB2<\/i><\/scp> is associated with a neurodevelopmental phenotype"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1607-9580","authenticated-orcid":false,"given":"Deanna","family":"Fry","sequence":"first","affiliation":[{"name":"Genetic Counseling Indiana State University  Terre Haute Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Groepper","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Southern Illinois University School of Medicine  Springfield Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gretchen","family":"MacCarrick","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin M.","family":"Demo","sequence":"additional","affiliation":[{"name":"Sibley Heart Center Cardiology, Children's Healthcare of Atlanta  Atlanta Georgia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew J.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Virginia  Charlottesville Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret J.","family":"Wilkes","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J.","family":"Lyons","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan E.","family":"Tucker","sequence":"additional","affiliation":[{"name":"Genetic Counseling Indiana State University  Terre Haute Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Steding","sequence":"additional","affiliation":[{"name":"Genetic Counseling Indiana State University  Terre Haute Indiana USA"},{"name":"The Rich and Robin Porter Cancer Research Center  Terre Haute Indiana USA"},{"name":"Marian University College of Osteopathic Medicine  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0487-8729","authenticated-orcid":false,"given":"Julie","family":"Fleischer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Southern Illinois University School of Medicine  Springfield Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,4,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2019.00427"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1261\/rna.7200205"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.14658"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38286"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2349"},{"key":"e_1_2_9_7_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Loeys B. 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