{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T18:35:54Z","timestamp":1764873354244},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Foerderer Fund"},{"name":"Robison D. Harley, MD Endowed Chair in Pediatric Ophthalmology and Ocular Genetics"},{"name":"State Scholarship Fund P. R. China"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of <jats:italic>FBN1<\/jats:italic> gene. We report on a family with ectopia lentis. The propositus is a 6\u2010year\u2010old boy with bilateral superior\u2010temporal ectopia lentis. His echocardiogram was normal and he did not meet the revised Ghent criteria for Marfan syndrome. Molecular genetic testing revealed c.1948 C&gt;T (p.Arg650Cys) in <jats:italic>FBN1<\/jats:italic>. The mother has visual acuity of 20\/20 with \u22124.50 right eye and \u22122.50 left eye. She has no evidence of ectopia lentis. DNA analysis revealed that she has the same <jats:italic>FBN1<\/jats:italic> mutation. Seven other maternal family members also have ectopia lentis. In conclusion, we report on a case of early\u2010onset autosomal dominant isolated ectopia lentis caused by <jats:italic>FBN1<\/jats:italic> mutation that has previously been reported only in Marfan syndrome. The child's mother presumably represents a rare case of nonpenetrance. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37035","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:53:41Z","timestamp":1429674821000},"page":"1365-1368","source":"Crossref","is-referenced-by-count":14,"title":["Early onset ectopia lentis due to a <i>FBN1<\/i> mutation with non\u2010penetrance"],"prefix":"10.1002","volume":"167","author":[{"given":"Li","family":"Zhang","sequence":"first","affiliation":[{"name":"Pediatric Ophthalmology and Ocular Genetics Wills Eye Hospital Philadelphia Pennsylvania"},{"name":"Department of Ophthalmology The First Affiliated Hospital of Chongqing Medical University Chongqing P. R. 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