{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:26:52Z","timestamp":1791296812147,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T00:00:00Z","timestamp":1239062400000},"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":[[2009,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>FBN1<\/jats:italic> gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a <jats:italic>FBN1<\/jats:italic> mutation does not meet diagnostic criteria for MFS, and are diagnosed with \u201cother type I fibrillinopathy.\u201d In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete \u201cclinical\u201d international criteria (Ghent nosology) from a large collaborative international study including 1,009 propositi with a pathogenic <jats:italic>FBN1<\/jats:italic> mutation. We focused on patients with only one major clinical criterion, [including isolated ectopia lentis (EL; 12 patients), isolated ascending aortic dilatation (17 patients), and isolated major skeletal manifestations (1 patient)] or with no major criterion but only minor criteria in 1 or more organ systems (16 patients). At least one component of the Ghent nosology, insufficient alone to make a minor criterion, was found in the majority of patients with isolated ascending aortic dilatation and isolated EL. In patients with isolated EL, missense mutations involving a cysteine were predominant, mutations in exons 24\u201332 were underrepresented, and no mutations leading to a premature truncation were found. Studies of recurrent mutations and affected family members of propositi with only one major clinical criterion argue for a clinical continuum between such phenotypes and classical MFS. Using strict definitions, we conclude that patients with <jats:italic>FBN1<\/jats:italic> mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32809","type":"journal-article","created":{"date-parts":[[2009,4,7]],"date-time":"2009-04-07T19:01:53Z","timestamp":1239130913000},"page":"854-860","source":"Crossref","is-referenced-by-count":42,"title":["Pathogenic <i>FBN1<\/i> mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major 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