{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T08:41:20Z","timestamp":1787992880223,"version":"build-2784847793"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T00:00:00Z","timestamp":1543363200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pathogenic variants in <jats:italic>FBN1<\/jats:italic> cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic variants in <jats:italic>FBN1<\/jats:italic> have been described. The aim of this report was to underline the clinical variability that can be associated with the pathogenic variant c.1453C&gt;T, p.(Arg485Cys) in <jats:italic>FBN1<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We provide the clinical details of two autosomal dominant families with this specific <jats:italic>FBN1<\/jats:italic> variant, which was previously associated with autosomal recessive Marfan syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Clinical data of 14 individuals carrying this variant from these two families were collected retrospectively. In both families, the diagnosis of autosomal dominant Marfan syndrome was established based on the characteristics of the variant and the phenotype which includes aortic aneurysms and dissections. Of interest, in one of the families, multiple relatives were diagnosed with early onset abdominal aortic aneurysms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In conclusion, <jats:italic>FBN1<\/jats:italic> variant c.1453C&gt;T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.518","type":"journal-article","created":{"date-parts":[[2018,11,28]],"date-time":"2018-11-28T17:41:56Z","timestamp":1543426916000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Autosomal dominant Marfan syndrome caused by a previously reported recessive <i>FBN1<\/i> variant"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0993-5035","authenticated-orcid":false,"given":"Eline","family":"Overwater","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Clinical Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rifka","family":"Efrat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4461-4293","authenticated-orcid":false,"given":"Daniela Q. 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M.","family":"Barge\u2010Schaapveld","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6385-1804","authenticated-orcid":false,"given":"Phillis","family":"Lakeman","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0936-1406","authenticated-orcid":false,"given":"Marjan M.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6223-2593","authenticated-orcid":false,"given":"Alessandra","family":"Maugeri","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3854-6749","authenticated-orcid":false,"given":"J. Peter","family":"van Tintelen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Amsterdam UMC University of Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Clinical Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"},{"name":"Department of Genetics University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arjan C.","family":"Houweling","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,28]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cpcardiol.2007.10.001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-103996"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0164-9"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2009.01.073"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201865"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1349"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2005.081638"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.5.359"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21372"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12073"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2009.00545.x"},{"issue":"6","key":"e_1_2_8_14_1","first-page":"1083","article-title":"A compound\u2010heterozygous Marfan patient: Two defective fibrillin alleles result in a lethal phenotype","volume":"55","author":"Karttunen L.","year":"1994","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2013.11.012"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2012.08.001"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.59.1.81"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2008.12.007"},{"issue":"1","key":"e_1_2_8_20_1","first-page":"95","article-title":"Marfan's syndrome presenting with abdominal aortic aneurysm: A case for vigilance","volume":"22","author":"Ugwu B. 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