{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T22:21:31Z","timestamp":1740176491774,"version":"3.37.3"},"reference-count":6,"publisher":"Cold Spring Harbor Laboratory","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:p>Aortic diseases arising in Marfan syndrome (MFS), such as in aneurysms and dissections of the thoracic aorta, are related to genetic alterations in the <jats:italic>FBN1<\/jats:italic> gene. Databases, such as Universal Mutations-<jats:italic>FBN1<\/jats:italic>, ClinVar, and The Human Gene Mutation, contain more than a thousand <jats:italic>FBN1<\/jats:italic> mutations associated with MFS. The <jats:italic>FBN1<\/jats:italic> gene, which encodes fibrillin-1, is responsible for the integral production of different protein domains. Possible genetic changes may lead to a weakening of blood vessels, leading to the development of aortopathies. In this study, we present the association of a novel <jats:italic>FBN1<\/jats:italic> variant with MFS. The proband is a man who presented with ascending aortic aneurysm and dissection (TAAD) at 42-yr-old, which was surgically treated. Clinical investigations were performed in all family members enrolled in the study. Marfan signs were observed in the proband, daughters, and granddaughter. Direct sequencing of the <jats:italic>FBN1<\/jats:italic> gene in the proband identified a novel truncation variant p.(Glu2019Ter), and a cascade screening was done. The variant was classified as pathogenic and causal for MFS according to the American College of Medical Genetics and Genomics (ACMG) criteria and revised Ghent nosology for MFS diagnosis, respectively. Proband's daughter and granddaughter harbor the variant, however, without aortic alteration. This work reports for the first time a patient with the <jats:italic>FBN1<\/jats:italic>-p.(Glu2019Ter) variant and its association with MFS\/TAAD.<\/jats:p>","DOI":"10.1101\/mcs.a006215","type":"journal-article","created":{"date-parts":[[2022,5,23]],"date-time":"2022-05-23T18:36:31Z","timestamp":1653330991000},"page":"a006215","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a novel pathogenic variant in <i>FBN1<\/i> associated with Marfan syndrome"],"prefix":"10.1101","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8323-0431","authenticated-orcid":false,"given":"Julia P.","family":"Pereira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9987-7333","authenticated-orcid":false,"given":"Juliana R.","family":"Ferreira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7580-8387","authenticated-orcid":false,"given":"Anna Paula A.","family":"Botelho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3325-247X","authenticated-orcid":false,"given":"Marcelo M.","family":"Melo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7221-1515","authenticated-orcid":false,"given":"Glauber M.","family":"Dias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2022,5,19]]},"reference":[{"key":"2022062212050506000_8.4.a006215.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjan.2016.04.002"},{"key":"2022062212050506000_8.4.a006215.2","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"2022062212050506000_8.4.a006215.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"2022062212050506000_8.4.a006215.4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2022062212050506000_8.4.a006215.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"2022062212050506000_8.4.a006215.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.jjcc.2019.03.014"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,22]],"date-time":"2022-06-22T19:05:36Z","timestamp":1655924736000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,19]]},"references-count":6,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,6,22]]},"published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1101\/mcs.a006215"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006215","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"type":"print","value":"2373-2865"},{"type":"electronic","value":"2373-2873"}],"subject":[],"published":{"date-parts":[[2022,5,19]]}}}