{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:08:50Z","timestamp":1790482130157,"version":"4.1.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T00:00:00Z","timestamp":1384473600000},"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":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>So far only mutations in the filamin A gene (<jats:italic>FLNA<\/jats:italic>) have been identified as causing familial mitral valve prolapse (MVP). Previous studies have linked dysregulation of the transforming growth factor beta (TGF\u2010\u03b2) cytokine family to MVP. We investigated whether mutations in the TGF\u2010\u03b2 receptors genes type I (<jats:italic>TGFBR1<\/jats:italic>) and II (<jats:italic>TGFBR2<\/jats:italic>) underlie isolated familial MVP cases. Eight families with isolated familial MVP were evaluated clinically and genetically. Ventricular arrhythmias were present in five of the eight families and sudden cardiac death occurred in six patients. Tissue obtained during mitral valve surgery or autopsy was available for histological examination in six cases; all demonstrated myxomatous degeneration. A previously described <jats:italic>FLNA<\/jats:italic> missense mutation (p.G288R) was identified in one large family, but no mutations were discovered in <jats:italic>TGFBR1<\/jats:italic> or <jats:italic>TGFBR2<\/jats:italic>. An <jats:italic>FLNA<\/jats:italic> missense mutation was identified in one family but we found no <jats:italic>TGFBR1<\/jats:italic> or <jats:italic>TGFBR2<\/jats:italic> mutations. Our results suggest that <jats:italic>TGFBR1<\/jats:italic> and <jats:italic>TGFBR2<\/jats:italic> mutations do not play a major role in isolated myxomatous valve dystrophy. Screening for <jats:italic>FLNA<\/jats:italic> mutations is recommended in familial myxomatous valvular dystrophy, particularly if X\u2010linked inheritance is suspected. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36211","type":"journal-article","created":{"date-parts":[[2013,11,15]],"date-time":"2013-11-15T22:14:20Z","timestamp":1384553660000},"page":"113-119","source":"Crossref","is-referenced-by-count":13,"title":["Screening of <i>TGFBR<\/i><i>1<\/i>, <i>TGFBR<\/i><i>2<\/i>, and <i>FLNA<\/i> in familial mitral valve prolapse"],"prefix":"10.1002","volume":"164","author":[{"given":"Jan J.J.","family":"Aalberts","sequence":"first","affiliation":[{"name":"Department of Cardiology University of Groningen, University Medical Center Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Peter","family":"van Tintelen","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toon","family":"Oomen","sequence":"additional","affiliation":[{"name":"Department of Cardiology Antonius Hospital Sneek Sneek The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorieke E.H.","family":"Bergman","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Groningen, University Medical Center Groningen Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dicky J.J.","family":"Halley","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rotterdam Erasmus University Rotterdam, Erasmus University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan 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