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Progressive aortic root dilatation with aortic regurgitation was documented from 70\u2009years leading to valve\u2010sparing aortic root replacement at 77\u2009years, at which time genetic studies identified a likely pathogenic <jats:italic>FBN1<\/jats:italic> missense variant c.6916C\u2009&gt;\u2009T (p.Arg2306Cys) in exon 56. The proband's lenses were normally positioned and the Marfan syndrome (MFS) systemic score was 0\/20. Cascade genetic testing identified 15 other family members with the <jats:italic>FBN1<\/jats:italic> variant, several of whom had unsuspected aortic root dilatation; none had ectopia lentis or MFS systemic score\u2009\u2265\u20097. Segregation analysis resulted in reclassification of the <jats:italic>FBN1<\/jats:italic> variant as pathogenic. The combination of thoracic aortic aneurysm and dissection (TAAD) and a pathogenic <jats:italic>FBN1<\/jats:italic> variant in multiple family members allowed a diagnosis of MFS using the revised Ghent criteria. At 82\u2009years, the proband's presenting abdominal aortic aneurysm was diagnosed retrospectively to have resulted from IgG4\u2010related inflammatory aortopathy.<\/jats:p>","DOI":"10.1002\/ajmg.a.62218","type":"journal-article","created":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T17:44:41Z","timestamp":1619027081000},"page":"2180-2189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Marfan syndrome resulting from a rare pathogenic <scp><i>FBN1<\/i><\/scp>\u00a0variant, ascertained through a proband with <scp>IgG4<\/scp>\u2010related\u00a0arteriopathy"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7310-5124","authenticated-orcid":false,"given":"Eric A.","family":"Haan","sequence":"first","affiliation":[{"name":"Adult Genetics Unit, Royal Adelaide Hospital, Adelaide and Faculty of Health and Medical Sciences University of Adelaide  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francois H.","family":"Chamalaun","sequence":"additional","affiliation":[{"name":"Flagstaff Hill  Adelaide South Australia Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A. 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