{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T11:06:28Z","timestamp":1775041588354,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,1,20]],"date-time":"2023-01-20T00:00:00Z","timestamp":1674172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070961"],"award-info":[{"award-number":["82070961"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012151","name":"Sanming Project of Medicine in Shenzhen","doi-asserted-by":"publisher","award":["SZSM201812091"],"award-info":[{"award-number":["SZSM201812091"]}],"id":[{"id":"10.13039\/501100012151","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a syndrome, such as the Marfan syndrome. The fibrillin\u20101 protein encoded by the <jats:italic>FBN1<\/jats:italic> gene is an essential component of the lens zonules. Mutations in <jats:italic>FBN1<\/jats:italic> are the leading causes of congenital EL and Marfan syndrome. Owing to the complexity and individual heterogeneity of <jats:italic>FBN1<\/jats:italic> gene mutations, the correlation between <jats:italic>FBN1<\/jats:italic> mutation characteristics and various clinical phenotypes remains unclear.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study describes the clinical characteristics and identifies possible causative genes in eight families with Marfan syndrome or isolated EL using Sanger and whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eight <jats:italic>FBN1<\/jats:italic> mutations were identified in these families, of which three (c.5065G\u2009&gt;\u2009C, c.1600\u2009T\u2009&gt;\u2009A, and c.2210G\u2009&gt;\u2009C) are reported for the first time. Based on in silico analyses, we hypothesized that these mutations may be pathogenic by affecting the fibrillin\u20101 protein structure and function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These findings expand the number of known mutations involved in EL and provide a reference for the research on their genotype and phenotype associations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2140","type":"journal-article","created":{"date-parts":[[2023,1,21]],"date-time":"2023-01-21T03:49:47Z","timestamp":1674272987000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical and genetic findings in Chinese families with congenital ectopia lentis"],"prefix":"10.1002","volume":"11","author":[{"given":"Xin","family":"Liu","sequence":"first","affiliation":[{"name":"Shenzhen Eye Hospital Jinan University, Shenzhen Eye Institute  Shenzhen Guangdong 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