{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:23:19Z","timestamp":1781079799987,"version":"3.54.1"},"reference-count":17,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T00:00:00Z","timestamp":1590624000000},"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":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loeys\u2010Dietz syndrome is a heritable disorder of the connective tissue leading to multisystem involvement including craniofacial features, skeletal abnormalities, cutaneous findings and early\u2010onset and aggressive disease of the aorta and its branches. There are multiple types of Loeys\u2010Dietz syndrome related to pathogenic variants in <jats:italic>TGFBR1<\/jats:italic>, <jats:italic>TGFBR2<\/jats:italic>, <jats:italic>SMAD3<\/jats:italic>, <jats:italic>TGFB2<\/jats:italic>, and <jats:italic>TGFB3<\/jats:italic>. Individuals with Loeys\u2010Dietz syndrome may be misdiagnosed as having Marfan syndrome due to shared phenotypic features and aortic root dilation. However, ectopia lentis has been an important discriminating feature, being unique to Marfan syndrome and not reported to be associated with Loeys\u2010Dietz syndrome. We report the case of a 46\u2010year\u2010old woman with Loeys\u2010Dietz syndrome type 4 due to a pathogenic variant in <jats:italic>TGFB2<\/jats:italic> who was diagnosed with ectopia lentis at age 44. The patient underwent whole exome sequencing and no other pathogenic variants were found to explain the ectopia lentis. Our findings indicate that ectopia lentis may be an uncommon finding in Loeys\u2010Dietz syndrome type 4 and emphasize the importance of genetic testing in familial thoracic aortic aneurysm disease.<\/jats:p>","DOI":"10.1002\/ajmg.a.61633","type":"journal-article","created":{"date-parts":[[2020,5,28]],"date-time":"2020-05-28T07:42:20Z","timestamp":1590651740000},"page":"1957-1959","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Ectopia lentis in <scp>Loeys\u2010Dietz<\/scp> syndrome type 4"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1859-310X","authenticated-orcid":false,"given":"Alan C.","family":"Braverman","sequence":"first","affiliation":[{"name":"Cardiovascular Division, Department of Medicine Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin J.","family":"Blinder","sequence":"additional","affiliation":[{"name":"The Retina Institute  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sangeeta","family":"Khanna","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology St. Louis University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia","family":"Willing","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2348"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2017-311254"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0221-6"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/520125"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0183370"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi200183z"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.037283"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.12068"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2349"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_2_7_14_1","first-page":"684","article-title":"The eye in the Marfan syndrome","volume":"79","author":"Maumenee I. 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