{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:37:08Z","timestamp":1789627028023,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T00:00:00Z","timestamp":1353369600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the NK2 homeobox 1 gene (<jats:italic>NKX2\u20101<\/jats:italic>) cause a rare syndrome known as choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome (OMIM 610978). Here we present the first reported patient with this condition caused by a 14q13.3 deletion which is adjacent to but does not interrupt <jats:italic>NKX2\u20101<\/jats:italic>, and review the literature on this condition. The infant presented at 23 months with a history of developmental delay, hyperkinesia, recurrent respiratory infections, neonatal respiratory distress, and hypothyroidism. Choreiform movements and delayed motor milestones were first noted at 6\u20138 months of age. TSH levels had been consistently elevated from 8 months of age. The clinical presentation was suggestive of an <jats:italic>NKX2\u20101<\/jats:italic> mutation. Sequencing of all exons and splice site junctions of <jats:italic>NKX2\u20101<\/jats:italic> was performed but was normal. Array CGH was then performed and a 3.29\u2009Mb interstitial deletion at 14q13.1\u2013q13.3 was detected. The distal region of loss of the deletion disrupted the surfactant associated 3 (<jats:italic>SFTA3)<\/jats:italic> gene but did disrupt <jats:italic>NKX2\u20101.<\/jats:italic> Findings were confirmed on high resolution SNP array and multiplex semiquanitative PCR. <jats:italic>NKX2\u20101<\/jats:italic> encodes transcriptional factors involved in the developmental pathways for thyroid, lung, and brain. We hypothesize that the region centromeric to <jats:italic>NKX2\u20101<\/jats:italic> is important for the normal functioning of this gene and when interrupted produces a phenotype that is typical of the choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome, as seen in our patient. We conclude that deletions at 14q13.3 adjacent to but not involving <jats:italic>NKX2\u20101<\/jats:italic> can cause choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35456","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T15:16:23Z","timestamp":1353424583000},"page":"3168-3173","source":"Crossref","is-referenced-by-count":35,"title":["Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact <i>NKX2\u20101<\/i>"],"prefix":"10.1002","volume":"158A","author":[{"given":"Christopher P.","family":"Barnett","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justin J.","family":"Mencel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Waters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Kirwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathy M. B","family":"Vinette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Uppill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian","family":"Nicholl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,11,20]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2010.05878.x"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.971"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp162"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.22.10171-10182.2005"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21135"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804303381817"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M205977200"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.04.011"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/stem.587"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1990.tb07574.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M204858200"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.14.8108"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107111"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1418"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20577"},{"key":"e_1_2_4_17_1","first-page":"61","article-title":"Two siblings with interstitial deletion of chromosome 14 [46 xx, del (14) (q12 q13.3)]","volume":"22","author":"Kodama M","year":"1990","journal-title":"No To Hattatsu"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214341"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.00028.2006"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.16.4.837"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9234"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05295"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2009.08.015"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0902426106"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35456","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35456","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:44:56Z","timestamp":1697633096000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35456"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,20]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1002\/ajmg.a.35456"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35456","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,20]]}}}