{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:02:34Z","timestamp":1740135754009,"version":"3.37.3"},"reference-count":19,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T00:00:00Z","timestamp":1649116800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Natural Science Foundation for Young Scientists of China","award":["81700223","2018M633020","201804010230"],"award-info":[{"award-number":["81700223","2018M633020","201804010230"]}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["81700223","2018M633020","201804010230"],"award-info":[{"award-number":["81700223","2018M633020","201804010230"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Science and Technology Program of Guangzhou, China","award":["81700223","2018M633020","201804010230"],"award-info":[{"award-number":["81700223","2018M633020","201804010230"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetics Research"],"published-print":{"date-parts":[[2022,4,5]]},"abstract":"<jats:p>Background. Marfan syndrome (MFS) is a connective tissue disease involving multiple systems, with thoracic aortic aneurysm (TAA) as the most common life-threatening manifestation. Method. A pedigree with TAA was investigated, and peripheral venous blood was extracted from six family members. After whole exome sequencing (WES) and chromosomal microarray analysis (CMA) in these individuals, bioinformatics and inheritance analyses were performed. Result. WES revealed a novel, small, 0.76\u2009Mb microdeletion in 15q21.1, which cosegregated with the disease phenotype in the family and led to the haploinsufficiency of the fibrillin 1 (FBN1) gene, which is associated with MFS. This small copy number variant (CNV) was confirmed by CMA. Conclusion. Our study expands the phenotypic spectrum of the pathogenic CNV associated with MFS, thereby facilitating clinical genetic diagnosis and future genetic counseling for this family.<\/jats:p>","DOI":"10.1155\/2022\/3556302","type":"journal-article","created":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T18:20:09Z","timestamp":1649182809000},"page":"1-7","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome"],"prefix":"10.1155","volume":"2022","author":[{"given":"Rencong","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Surgery, The First Affiliated Hospital, Jinan University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, The Second People\u2019s Hospital of Foshan, Foshan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hua","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, The First Affiliated Hospital, Jinan University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinlong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Thoracic and Cardiovascular Surgery, Shanghai Children\u2019s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, China"},{"name":"The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengjie","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, The First Affiliated Hospital, Jinan University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, The First Affiliated Hospital, Jinan University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2353-1915","authenticated-orcid":true,"given":"Xiaoshen","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, The First Affiliated Hospital, Jinan University, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7067-7450","authenticated-orcid":true,"given":"Xiaoping","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, China"},{"name":"The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5669-916X","authenticated-orcid":true,"given":"Chaojie","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Surgery, Guangdong Provincial Hospital of Chinese Medicine, Guangzhou, China"},{"name":"The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/s0140-6736(05)67789-6"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1007\/s00414-020-02371-4"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1042\/bsr20203356"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/j.pcad.2018.07.020"},{"key":"5","first-page":"11","article-title":"Surgery of thoracic aortic aneurysms: modern surgical treatment and results","volume":"39","author":"F. 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