{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T11:00:00Z","timestamp":1758279600212,"version":"3.37.3"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T00:00:00Z","timestamp":1702944000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Thoracic aortic aneurysm (TAA) is a multifactorial disorder. Familial TAA, which is more clinically aggressive, is associated with a high risk of lethal dissection or rupture. Genetic evaluation can provide TAA patients with personalized treatment and help in predicting risk to family members.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>The purpose of this investigation was to report a likely pathogenic variant in the EFEMP2 gene that may contribute to TAA in a family with a documented history of the condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In the index patient, the causative genetic predisposition was identified using whole-exome sequencing. The potential likely pathogenic effect of the candidate variant was further analyzed through bioinformatics analysis, homology modeling, and molecular docking.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The results revealed a likely pathogenic heterozygous variant, c.247C&amp;gt;T p.Arg83Cys, in exon 4 of the EFEMP2 gene (NM_016938), which was predicted to have disease-causing effects by MutationTaster, PROVEAN, SIFT, and CADD (phred score = 27.6).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In this study, a likely pathogenic variant in the EFEMP2 gene was identified in an Iranian family with a dominant pattern of autosomal inheritance of TAA. This finding underscores the importance of conducting molecular genetic evaluations in families with nonsyndromic TAA and the significance of early detection of at-risk family members.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/labmed\/lmad109","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T20:20:13Z","timestamp":1703017213000},"page":"447-453","source":"Crossref","is-referenced-by-count":3,"title":["Whole-exome sequencing uncovers a novel <i>EFEMP2<\/i> gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm"],"prefix":"10.1093","volume":"55","author":[{"given":"Parham","family":"Sadeghipour","sequence":"first","affiliation":[{"name":"Cardiovascular Intervention Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marzieh","family":"Valuian","sequence":"additional","affiliation":[{"name":"School of Medicine, and Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serwa","family":"Ghasemi","sequence":"additional","affiliation":[{"name":"School of Medicine, and Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8404-8858","authenticated-orcid":false,"given":"Farnaz","family":"Rafiee","sequence":"additional","affiliation":[{"name":"School of Medicine, and Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryam","family":"Pourirahim","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehran","family":"Mahmoodian","sequence":"additional","affiliation":[{"name":"Tehran Heart Center, Tehran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majid","family":"Maleki","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center , Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3499-044X","authenticated-orcid":false,"given":"Samira","family":"Kalayinia","sequence":"additional","affiliation":[{"name":"Cardiogenetic Research Center , Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,12,19]]},"reference":[{"key":"2024070305535532200_CIT0001","first-page":"816","article-title":"Isselbacher EM. 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