{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T19:10:11Z","timestamp":1741893011854,"version":"3.38.0"},"reference-count":0,"publisher":"University of Toronto Press Inc. (UTPress)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical and Investigative Medicine"],"published-print":{"date-parts":[[2010,2,1]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p> Transforming growth factor beta receptors II gene (TGFBR2) mutations associated with Marfan syndrome and Marfan-associated disorders have been investigated. However, such studies are limited in China. To obtain more information about TGFBR2 mutations, we analyzed 6 unrelated Chinese patients with Marfan-associated disorders and without ocular manifestation. <\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p> The genomic DNA from blood leukocytes of these 6 patients and their relatives was isolated, and the entire coding region of TGFBR2 was amplified using PCR. We determined the sequence of TGFBR2 with the ABI 3100 Genetic Analyzer. <\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p> Three mutations were identified in TGFBR2. Two mutations were associated with Loeys-Dietz syndrome (LDS), which were distributed as following: one missense mutation R528C (caused by a 1582C &gt; T substitution) and one polymorphism T315M (a rare SNP). The third mutation was a novel silent mutation associated with MFS2, which was K291K caused by an 873 C &gt; T substitution. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p> The TGFBR2 gene missense mutations are possibly causative mutations of Loeys-Dietz syndrome. This result suggests an increase in the mutation spectrum of Marfan-related disorders in China and possibly world-wide. <\/jats:p><\/jats:sec>","DOI":"10.25011\/cim.v33i1.11833","type":"journal-article","created":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T23:20:42Z","timestamp":1493767242000},"page":"E14-E21","source":"Crossref","is-referenced-by-count":5,"title":["Mutations of the TGFBR2 gene in Chinese patients with Marfan-related syndrome"],"prefix":"10.3138","volume":"33","author":[{"given":"Chen","family":"JinLan","sequence":"first","affiliation":[{"name":"Department of Cardiothoracic Surgery, the Second Xiangya Hospital, Central South University, Changsha, Hunan P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"BuYun","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, Hainan Provincial People\u2019s Hospital, Haikou, Hainan P.R.China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"YiFeng","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, the Second Xiangya Hospital, Central South University, Changsha, Hunan P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hu","family":"JianGuo","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, the Second Xiangya Hospital, Central South University, Changsha, Hunan P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao","family":"TianLi","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, the Second Xiangya Hospital, Central South University, Changsha, Hunan P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gong","family":"YiBo","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, the Second Xiangya Hospital, Central South University, Changsha, Hunan P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tan","family":"ZhiPing","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, the Second Xiangya Hospital, Central South University, Changsha, Hunan P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1696","container-title":["Clinical and Investigative Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/cimonline.ca\/index.php\/cim\/article\/viewFile\/11833\/8724","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/utppublishing.com\/doi\/pdf\/10.25011\/cim.v33i1.11833","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,13]],"date-time":"2025-03-13T18:29:03Z","timestamp":1741890543000},"score":1,"resource":{"primary":{"URL":"https:\/\/utppublishing.com\/doi\/10.25011\/cim.v33i1.11833"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,2,1]]}},"alternative-id":["10.25011\/cim.v33i1.11833"],"URL":"https:\/\/doi.org\/10.25011\/cim.v33i1.11833","relation":{},"ISSN":["1488-2353"],"issn-type":[{"type":"electronic","value":"1488-2353"}],"subject":[],"published":{"date-parts":[[2010,2,1]]}}}