{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:37:18Z","timestamp":1789627038771,"version":"build-2803163510"},"reference-count":17,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2014,1,21]],"date-time":"2014-01-21T00:00:00Z","timestamp":1390262400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2014,5]]},"abstract":"The NKX2-1 (TTF-1 or TITF-1) gene on chromosome 14q13 codes for the thyroid transcription factor 1 (TTF-1). It is expressed in the developing brain, lung, and thyroid. Defects have been associated with chorea, hypothyroidism, and lung disease, comprising the \u201cbrain-thyroid-lung syndrome.\u201d We describe here 3 cases of novel missense mutation (c.626G>C; p.Arg209Pro) in NKX2-1 in 2 generations of a nonconsanguinous family. Firstly 2 sons were affected by childhood-onset hypothyroidism and a movement disorder characterized by ataxia in the early years followed by the emergence of a superimposed chorea. The mutation was also found in the granddaughter, when she presented with the same clinical features. We hypothesize that the mutation arose as a result of gonadal mosaicism, as the mutation was not detected in leucocyte DNA from either grandparent. The features are consistent with a diagnosis of Brain-thyroid-lung syndrome, which previously could have been classified as benign hereditary chorea with hypothyroidism.<\/jats:p>","DOI":"10.1177\/0883073813518243","type":"journal-article","created":{"date-parts":[[2014,1,22]],"date-time":"2014-01-22T20:14:35Z","timestamp":1390421675000},"page":"666-669","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["A Novel Mutation of\n NKX2-1<\/i>\n Affecting 2 Generations With Hypothyroidism and Choreoathetosis"],"prefix":"10.1177","volume":"29","author":[{"given":"Scott","family":"Williamson","sequence":"first","affiliation":[{"name":"Department of Paediatrics, NHS Ayrshire and Arran, Crosshouse Hospital, Kilmarnock, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Kirkpatrick","sequence":"additional","affiliation":[{"name":"Tayside Children\u2019s Hospital, Dundee, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Greene","sequence":"additional","affiliation":[{"name":"School of Medicine, University of Dundee, Dundee, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Goudie","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Ninewells Hospital, Dundee , United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,1,21]]},"reference":[{"key":"bibr1-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196706012762202"},{"key":"bibr2-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1086\/302725"},{"key":"bibr3-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.971"},{"key":"bibr4-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.1.60"},{"key":"bibr5-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381817"},{"key":"bibr6-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214341"},{"key":"bibr7-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp162"},{"key":"bibr8-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1559-x"},{"key":"bibr9-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21031"},{"key":"bibr10-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21644"},{"key":"bibr11-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(200003)15:2<280::AID-MDS1011>3.0.CO;2-Q"},{"key":"bibr12-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2008.0085"},{"key":"bibr13-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-1497"},{"key":"bibr14-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2011.01.002"},{"key":"bibr15-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.04.011"},{"key":"bibr16-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1210\/me.2003-0175"},{"key":"bibr17-0883073813518243","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000164000.75046.CC"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813518243","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073813518243","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813518243","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:36:36Z","timestamp":1777494996000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073813518243"}},"subtitle":["Part of the Spectrum of Brain-Thyroid-Lung Syndrome"],"short-title":[],"issued":{"date-parts":[[2014,1,21]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1177\/0883073813518243"],"URL":"https:\/\/doi.org\/10.1177\/0883073813518243","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,21]]}}}