{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T02:04:50Z","timestamp":1789524290530,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,9,19]],"date-time":"2011-09-19T00:00:00Z","timestamp":1316390400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Marfan syndrome (MFS) is a multisystem connective tissue disorder with primary involvement of the ocular, cardiovascular, and skeletal systems. We report on eight patients, all presenting initially with bilateral ectopia lentis (EL) during early childhood. These individuals did not have systemic manifestations of MFS, and did not fulfill the revised Ghent diagnostic criteria. However, all patients had demonstratable, disease\u2010causing missense mutations in the <jats:italic>FBN1<\/jats:italic> gene. Based on molecular results, cardiovascular imaging was recommended and led to the identification of mild aortic root changes in seven of the eight patients. The remaining patient had mitral valve prolapse with a normal appearing thoracic aorta. The findings presented in this paper validate the necessity of <jats:italic>FBN1<\/jats:italic> gene testing in all individuals presenting with isolated EL. As we observed, these individuals are at increased risk of cardiovascular complications. Furthermore, we also noted that the majority of our patient cohort's mutations occurred in the 5\u2032 portion of the <jats:italic>FBN1<\/jats:italic> gene, and were found to affect highly conserved cysteine residues, which may indicate a possible genotype\u2013phenotype correlation. We conclude that in patients with isolated features of EL, <jats:italic>FBN1<\/jats:italic> mutation analysis is necessary to aid in providing prompt diagnosis, and to identify patients at risk for potentially life\u2010threatening complications. Additionally, knowledge of the type and location of an <jats:italic>FBN1<\/jats:italic> mutation may be useful in providing further clinical correlation regarding phenotypic progression and appropriate medical management. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34245","type":"journal-article","created":{"date-parts":[[2011,9,19]],"date-time":"2011-09-19T21:03:47Z","timestamp":1316466227000},"page":"2661-2668","source":"Crossref","is-referenced-by-count":36,"title":["Ectopia lentis as the presenting and primary feature in Marfan syndrome"],"prefix":"10.1002","volume":"155","author":[{"given":"Neda","family":"Zadeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Kaisa","family":"Niemi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Dugan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Kwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. 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