{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T12:44:29Z","timestamp":1775306669277,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,6,21]],"date-time":"2013-06-21T00:00:00Z","timestamp":1371772800000},"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":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mutations in Fibrillin 1 (FBN1) are associated with Marfan syndrome and in some instances with the MASS phenotype (myopia, mitral valve prolapse, borderline non\u2010progressive aortic root dilatation, skeletal features, and striae). Potential confusion over diagnosis and management in patients with borderline features has been addressed through the revised Ghent nosology, which emphasizes the importance of aortic root dilatation and ectopia lentis as features of Marfan syndrome. The overlapping and more common mitral valve prolapse syndrome is precluded by ectopia lentis or aortic dilatation. Among these clinically related conditions, there is no compelling evidence that genotype predicts phenotype, with the exception of neonatal Marfan syndrome, mutations in which cluster within FBN1 exons 24\u221232. Recent reports also link two very different phenotypes to changes in FBN1. Heterozygous mutations in transforming growth factor \u03b2\u2010binding protein\u2010like domain 5 (TB5) can cause acromicric or geleophysic dysplasias\u2014and mutations in the TB4 domain, which contains an integrin binding RGD loop, have been found in congenital scleroderma\/stiff skin syndrome. We report on a variant in an evolutionarily conserved residue that stabilizes the integrin binding fragment of FBN1, associated with juvenile idiopathic arthritis, mitral valve prolapse or apparently normal phenotype in different family members. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36011","type":"journal-article","created":{"date-parts":[[2013,6,22]],"date-time":"2013-06-22T01:59:12Z","timestamp":1371866352000},"page":"2047-2051","source":"Crossref","is-referenced-by-count":4,"title":["Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin\u2010binding fragment of FBN1"],"prefix":"10.1002","volume":"161","author":[{"given":"Brian T.","family":"Wilson","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine Newcastle University, International Centre for Life Newcastle upon Tyne UK"},{"name":"Northern Genetics Service Newcastle upon Tyne Hospitals NHS Trust, International Centre for Life Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sacha A.","family":"Jensen","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Biochemistry, Department of Biochemistry University of Oxford Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciaron P.","family":"McAnulty","sequence":"additional","affiliation":[{"name":"Northern Genetics Service Newcastle upon Tyne Hospitals NHS Trust, International Centre for Life Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Brennan","sequence":"additional","affiliation":[{"name":"Northern Genetics Service Newcastle upon Tyne Hospitals NHS Trust, International Centre for Life Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Penny A.","family":"Handford","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Biochemistry, Department of Biochemistry University of Oxford Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,6,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1194-7"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2011.46"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951100005217"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471140864.ps0209s50"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10112"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2004.02.023"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"e_1_2_5_9_1","volume-title":"CRC Handbook of chemistry and physics","author":"Lide DR","year":"2010"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1997.1.237"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3000488"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10067-007-0701-3"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01126.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36011","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T22:59:32Z","timestamp":1696633172000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,21]]},"references-count":13,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["10.1002\/ajmg.a.36011"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36011","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,21]]}}}