{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:08:00Z","timestamp":1761102480274,"version":"3.41.2"},"reference-count":29,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,9,8]],"date-time":"2021-09-08T00:00:00Z","timestamp":1631059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Thoracic aortic aneurysm and dissection (TAAD) is a life\u2010threatening pathology that remains a challenge worldwide. Up to 40% of TAAD cases are hereditary with complex heterogeneous genetic backgrounds. The purposes of this study were to determine the diagnostic rate of patients with TAAD, investigate the molecular pathologic spectrum of TAAD by next\u2010generation sequencing (NGS), and explore the future preclinical prospects of genetic diagnosis in patients at high \u2010risk of study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>NGS was used to screen 15\u00a0genes associated with genetic TAAD in 212 patients from northwestern China. Clinical data of\u00a0patients were gathered by electrocardiography, transthoracic echocardiography, and computed tomography.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 212 patients, 67 (31.60%) tested positive for a (likely) pathogenic variant, 42 (19.81%) had a variant of uncertain significance (VUS), and 103 (48.58%) had no variant (likely benign\/benign\/negative). A total of 135 reportable variants were detected in our test, among which 77 (57.04%) are first reported in this paper. A genotype\u2013phenotype correlation of <jats:italic>FBN1<\/jats:italic> was assessed, and the data showed that the patients with truncating and splicing mutations are more prone to developing severe aortic dissection than those with missense mutations, especially frameshift mutations (82.76% vs. 42.86%). In this study, 43 (20.28%) patients had a family history of sudden death or TAAD, whereas 132 (62.26%) did not (the remaining 37 were not available), and the positive rate of genetic testing was higher in TAAD patients with family history than in those without (76.74% vs. 18.94%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study concludes that genetic variation is an important consideration in the risk stratification of individualized prediction and disease diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1800","type":"journal-article","created":{"date-parts":[[2021,9,9]],"date-time":"2021-09-09T00:43:30Z","timestamp":1631148210000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4439-6276","authenticated-orcid":false,"given":"Jinjie","family":"Li","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0045-8380","authenticated-orcid":false,"given":"Liu","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanjun","family":"Diao","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yijuan","family":"Xin","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liqing","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weixun","family":"Duan","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiayun","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Xijing Hospital Fourth Military Medical University Xi\u2019an China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,9,8]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_9_2_1","DOI":"10.1016\/j.athoracsur.2006.04.098"},{"doi-asserted-by":"publisher","key":"e_1_2_9_3_1","DOI":"10.1038\/gim.2014.91"},{"doi-asserted-by":"publisher","key":"e_1_2_9_4_1","DOI":"10.1186\/s13023-017-0754-6"},{"doi-asserted-by":"publisher","key":"e_1_2_9_5_1","DOI":"10.1016\/S0741-5214(97)70261-1"},{"doi-asserted-by":"publisher","key":"e_1_2_9_6_1","DOI":"10.1016\/j.ajhg.2015.06.009"},{"doi-asserted-by":"publisher","key":"e_1_2_9_7_1","DOI":"10.1038\/352337a0"},{"doi-asserted-by":"publisher","key":"e_1_2_9_8_1","DOI":"10.1093\/eurheartj\/ehu281"},{"doi-asserted-by":"publisher","key":"e_1_2_9_9_1","DOI":"10.1038\/s41598-017-09785-y"},{"doi-asserted-by":"publisher","key":"e_1_2_9_10_1","DOI":"10.1093\/eurheartj\/ehv739"},{"doi-asserted-by":"publisher","key":"e_1_2_9_11_1","DOI":"10.1007\/s00414-017-1583-9"},{"doi-asserted-by":"publisher","key":"e_1_2_9_12_1","DOI":"10.1038\/ng.2007.6"},{"issue":"8","key":"e_1_2_9_13_1","first-page":"1","article-title":"Deaths: final data for 1999","volume":"49","author":"Hoyert D. L.","year":"2001","journal-title":"National Vital Statistics Reports"},{"doi-asserted-by":"publisher","key":"e_1_2_9_14_1","DOI":"10.1016\/j.jvs.2012.08.126"},{"doi-asserted-by":"publisher","key":"e_1_2_9_15_1","DOI":"10.1161\/CIRCGENETICS.116.001485"},{"doi-asserted-by":"publisher","key":"e_1_2_9_16_1","DOI":"10.1016\/j.jvs.2012.04.053"},{"doi-asserted-by":"publisher","key":"e_1_2_9_17_1","DOI":"10.1378\/chest.117.5.1271"},{"doi-asserted-by":"publisher","key":"e_1_2_9_18_1","DOI":"10.1016\/j.ejvs.2010.09.011"},{"doi-asserted-by":"publisher","key":"e_1_2_9_19_1","DOI":"10.1016\/S0140-6736(14)61005-9"},{"doi-asserted-by":"publisher","key":"e_1_2_9_20_1","DOI":"10.1016\/j.jacc.2015.05.029"},{"doi-asserted-by":"publisher","key":"e_1_2_9_21_1","DOI":"10.1002\/humu.22802"},{"doi-asserted-by":"publisher","key":"e_1_2_9_22_1","DOI":"10.1161\/CIRCGENETICS.114.000943"},{"doi-asserted-by":"publisher","key":"e_1_2_9_23_1","DOI":"10.1016\/j.ijcard.2011.08.079"},{"doi-asserted-by":"publisher","key":"e_1_2_9_24_1","DOI":"10.1016\/j.jacc.2018.04.089"},{"doi-asserted-by":"publisher","key":"e_1_2_9_25_1","DOI":"10.1038\/gim.2015.30"},{"doi-asserted-by":"publisher","key":"e_1_2_9_26_1","DOI":"10.1093\/hmg\/ddx360"},{"doi-asserted-by":"publisher","key":"e_1_2_9_27_1","DOI":"10.1016\/j.jtcvs.2014.07.068"},{"doi-asserted-by":"publisher","key":"e_1_2_9_28_1","DOI":"10.1038\/srep33002"},{"doi-asserted-by":"publisher","key":"e_1_2_9_29_1","DOI":"10.1007\/s00414-018-1890-9"},{"doi-asserted-by":"publisher","key":"e_1_2_9_30_1","DOI":"10.1016\/j.athoracsur.2015.04.106"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1800","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1800","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1800","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T12:38:46Z","timestamp":1693226326000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1800"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,8]]},"references-count":29,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1002\/mgg3.1800"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1800","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,9,8]]},"assertion":[{"value":"2020-11-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1800"}}