{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:16Z","timestamp":1753869676504,"version":"3.41.2"},"reference-count":36,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T00:00:00Z","timestamp":1589846400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Marfan syndrome (MFS) is a multi\u2010systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic aneurysms\/dissections, along with various manifestations of the ocular and skeletal systems. Due to the genetic and clinical heterogeneity, the clinical diagnosis of this disorder is challenging. Loss\u2010of\u2010function mutations in <jats:italic>FBN1<\/jats:italic> (encodes fibrillin\u20101) lead to MFS type 1. Also, similar mutations in transforming growth factor \u03b2 receptor 2 (<jats:italic>TGFBR2)<\/jats:italic> gene cause MFS type 2. Both proteins involve in TGF\u2010\u03b2 signaling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, genetic screening using a panel involving 14 genes, especially <jats:italic>FBN1<\/jats:italic> and <jats:italic>TGFBR2<\/jats:italic>, were performed on seven representatives affected members of seven unrelated Iranian families suspected with MFS. To confirm the variants, Sanger sequencing was applied to other affected\/unaffected members of the families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 13 patients showed MFS manifestations. Using genetic screening, two novel and three previously reported variants in <jats:italic>FBN1<\/jats:italic> were identified. We also detected two variants (a novel and a previously reported variant) in the <jats:italic>TGFBR2<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study, we introduce three novel variants identified through gene screening in seven Iranian MFS families. This report is expected to considerably improve genetic counseling for Iranian MFS families. Early precise molecular diagnosis can be helpful for better management and improving the life expectancy of these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1274","type":"journal-article","created":{"date-parts":[[2020,5,20]],"date-time":"2020-05-20T07:52:57Z","timestamp":1589961177000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Three Novel Variants identified in <i>FBN1<\/i> and <i>TGFBR2<\/i> in seven Iranian families with suspected Marfan syndrome"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4489-2923","authenticated-orcid":false,"given":"Fatemeh","family":"Bitarafan","sequence":"first","affiliation":[{"name":"Department of Cellular and Molecular Biology North Tehran Branch Islamic Azad University Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9926-3975","authenticated-orcid":false,"given":"Ehsan","family":"Razmara","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Teheran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehrnoosh","family":"Khodaeian","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics DeNA Laboratory Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5803-4209","authenticated-orcid":false,"given":"Mohammad","family":"Keramatipour","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Kalhor","sequence":"additional","affiliation":[{"name":"Department of medical science Qom Branch Islamic Azad University Qom Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ehsan","family":"Jafarinia","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Teheran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5508-7903","authenticated-orcid":false,"given":"Masoud","family":"Garshasbi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medical Sciences Tarbiat Modares University Teheran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21525"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh082"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-59745-535-0_4"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1536\/ihj.18\u2010046"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl266"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12358"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.12968\/hmed.2016.77.1.38"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10249"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1385\/1-59745-088-X:81"},{"issue":"1","key":"e_1_2_10_11_1","first-page":"82","article-title":"Pymol: An open\u2010source Molecular Graphics Tool","volume":"40","author":"DeLano W. 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