{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:29:47Z","timestamp":1791203387246,"version":"4.2.0"},"reference-count":45,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,11,26]],"date-time":"2003-11-26T00:00:00Z","timestamp":1069804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The Children's Hospital at Westmead (to L.C.A.)"},{"name":"University of Sydney (to L.C.A.)"},{"name":"Financial Markets Foundation for Children (to L.C.A.)"},{"name":"Western Sydney Genetics Program (to L.C.A.)"},{"name":"Marfan Association Victoria, Inc. (to L.C.A.)"},{"name":"Marfan Association Australia (N.S.W. branch) (to L.C.A.)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of the fibrillin\u20101 (<jats:italic>FBN1<\/jats:italic>) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the \u201cMASS\u201d phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373\u20132378], familial arachnodactyly, Shprintzen\u2013Goldberg syndrome [Hayward et al., 1994: Mol Cell Probes 8:325\u2013327; Furthmayr and Francke, 1997: Semin Thorac Cardiovasc Surg 9:191\u2013205], and severe progressive kyphoscoliosis [Ad\u00e8s et al., 2002: Am J Med Genet 109:261\u2013270]. We report the use of denaturing high performance liquid chromatography (DHPLC) to facilitate the characterization of a previously elusive <jats:italic>FBN1<\/jats:italic> mutation in the large autosomal dominant EL kindred described by Edwards et al. [1994: Am J Med Genet 53:65\u201371]. This isolated EL kindred remains the largest for which detailed clinical data is available. Nine years on, we present an update of the clinical status of the family. We report a recurrent <jats:italic>FBN1<\/jats:italic> mutation, R240C, in the kindred. This mutation has been reported three times before, once in a family with classic MFS [Loeys et al., 2001: Arch Intern Med 161:2447\u20132454], once in one member of a multi\u2010generation EL kindred, [K\u00f6rkk\u00f6 et al., 2002: J Med Genet 39:34\u201341], and once in an adult from a familial EL kindred who had EL, and involvement of the integument, without cardiovascular involvement [Comeglio et al., 2002: Br J Ophthalmol 86:1359\u20131362]. This is the second report of the R240C mutation in association with isolated EL, and supports the existing evidence that the R240C mutation can result in two quite distinct, yet related, phenotypes. It also raises the possibility that R240C may prove to be a relative mutational \u201chot\u2010spot\u201d for isolated EL. We review the current literature regarding EL (isolated and other) and <jats:italic>FBN1<\/jats:italic> mutations. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20605","type":"journal-article","created":{"date-parts":[[2004,3,26]],"date-time":"2004-03-26T08:07:05Z","timestamp":1080288425000},"page":"284-289","source":"Crossref","is-referenced-by-count":59,"title":["Ectopia lentis phenotypes and the <i>FBN1<\/i> gene"],"prefix":"10.1002","volume":"126A","author":[{"given":"Lesley C.","family":"Ad\u00e8s","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine J.","family":"Holman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie S.","family":"Brett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew 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