{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:42:43Z","timestamp":1790516563681,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T00:00:00Z","timestamp":1375056000000},"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":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mutations in <jats:italic>FBN1<\/jats:italic> cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill\u2013Marchesani syndrome (WMS), familial thoracic aortic aneurysms\/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). Two forms of acromelic dysplasia, AD and GD, characterized by short stature, brachydactyly, reduced joint mobility, and characteristic facies, result from heterozygous missense mutations occurring in exons 41 and 42 of <jats:italic>FBN1<\/jats:italic>; missense mutations in these exons have not been reported to cause MFS or other syndromes. Here we report on probands with MFS and WMS who have heterozygous <jats:italic>FBN1<\/jats:italic> missense mutations in exons 41 and 42, respectively. The proband with WMS has ectopia lentis, short stature, thickened pinnae, tight skin, striae atrophicae, reduced extension of the elbows, contractures of the fingers and toes, and brachydactyly and has a missense mutation in exon 42 of <jats:italic>FBN1<\/jats:italic> (c.5242T&gt;C; p.C1748R). He also experienced a previously unreported complication of WMS, an acute thoracic aortic dissection. The second proband displays classic characteristics of MFS, including ectopia lentis, skeletal features, and aortic root dilatation, and has a missense mutation in exon 41 of <jats:italic>FBN1<\/jats:italic> (c.5084G&gt;A; p.C1695Y). These phenotypes provide evidence that missense mutations in exons 41 and 42 of <jats:italic>FBN1<\/jats:italic> lead to MFS and WMS in addition to AD and GD and also suggest that all individuals with pathogenic <jats:italic>FBN1<\/jats:italic> mutations in these exons should be assessed for thoracic aortic disease and ectopia lentis. Further studies are necessary to elucidate the factors responsible for the different phenotypes associated with missense mutations in these exons of <jats:italic>FBN1<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36044","type":"journal-article","created":{"date-parts":[[2013,7,29]],"date-time":"2013-07-29T19:49:00Z","timestamp":1375127340000},"page":"2305-2310","source":"Crossref","is-referenced-by-count":44,"title":["Missense mutations in <i>FBN1<\/i> exons 41 and 42 cause Weill\u2013Marchesani syndrome with thoracic aortic disease and Marfan syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Alana","family":"Cecchi","sequence":"first","affiliation":[{"name":"Department of Internal Medicine Division of Medical Genetics University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Division of Medical Genetics University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo R.","family":"Martinez","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Texas Children's Hospital Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Carlson","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Division of Medical Genetics University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxin","family":"Fan","sequence":"additional","affiliation":[{"name":"John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Penny","sequence":"additional","affiliation":[{"name":"John Welsh Cardiovascular Diagnostic Laboratory Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010chuan","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Division of Medical Genetics University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Eisenberg","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic and Vascular Surgery University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazim","family":"Safi","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic and Vascular Surgery University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Estrera","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic and Vascular Surgery University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology and Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Meyers","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Division of Medical Genetics University of Texas Health Science Center at Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Division of Medical Genetics University of Texas Health Science 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