{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:17:30Z","timestamp":1790252250555,"version":"4.1.0"},"reference-count":24,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> This study aimed to clarify the frequency, phenotypes, and molecular spectrum of <i>DUOX2<\/i>,<i> TPO<\/i>, <i>TSHR, <\/i>and <i>TG<\/i> mutations in patients with congenital hypothyroidism (CH) with enlarged or normal-sized eutopic thyroid glands. <b><i>Methods:<\/i><\/b> The study cohort included 43 subjects from 41 unrelated families who had CH with eutopic thyroid glands. Mutation analyses of <i>DUOX2<\/i>,<i> TPO<\/i>, and<i> TSHR<\/i> were performed. The functional capacities of novel missense variants of <i>DUOX2<\/i> were verified by measuring H<sub>2<\/sub>O<sub>2<\/sub> generation in vitro. <b><i>Results:<\/i><\/b> Of the 43 subjects, 23 (53.5%) had sequence variants in at least one gene. Twelve different <i>DUOX2<\/i> variants, including seven novel variants, were identified in 20 subjects. A functional analysis of the <i>DUOX2<\/i> variants revealed that most variants, other than p.G206V and p.H678R, caused a significant reduction in H<sub>2<\/sub>O<sub>2<\/sub> generation. Therefore, 15 subjects harbored functionally deleterious <i>DUOX2<\/i> variants. Of these, 5 subjects had transient CH, and 10 were found to have permanent CH. Sequence variants in <i>TSHR<\/i> were identified in 5 subjects. One of the 43 subjects (2.3%) had sequence variants in two different genes. <b><i>Conclusions:<\/i><\/b><i>DUOX2<\/i> variants are a relatively common cause of CH with normal-sized or enlarged eutopic thyroid glands. Variable phenotypes were associated with partial loss of the functional activity of <i>DUOX2<\/i> variants.<\/jats:p>","DOI":"10.1159\/000362235","type":"journal-article","created":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T06:35:24Z","timestamp":1411626924000},"page":"252-260","source":"Crossref","is-referenced-by-count":57,"title":["High Frequency of <b><i>DUOX2<\/i><\/b> Mutations in Transient or Permanent Congenital Hypothyroidism with Eutopic Thyroid Glands"],"prefix":"10.1159","volume":"82","author":[{"given":"Hye Young","family":"Jin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sun-Hee","family":"Heo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoo-Mi","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin-Ho","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beom-Hee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2014,9,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-17"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024158"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32834726a4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.85.10.6878"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2702"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2009.03568.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-1573"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-0856"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0426"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1767"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-2467"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210\/me.2007-0018"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21227"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa012752"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9372"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0127"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.10234"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2011.02536.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1001\/jama.291.2.228"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02314.x"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C600095200"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04156.x"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2373"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.01.029"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/362235","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/362235","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:37:08Z","timestamp":1745429828000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000362235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":24,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2014,10,1]]},"published-print":{"date-parts":[[2014,10,8]]}},"URL":"https:\/\/doi.org\/10.1159\/000362235","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.5126422","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}