{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T12:11:43Z","timestamp":1746187903339},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,6,3]],"date-time":"2003-06-03T00:00:00Z","timestamp":1054598400000},"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":[[2003,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Treacher Collins syndrome (TCS) is caused by mutations in the<jats:italic>TCOF1<\/jats:italic>gene. This gene encodes a serine\/alanine\u2010rich protein called treacle. The structure of the entire<jats:italic>TCOF1<\/jats:italic>gene was investigated in a patient with TCS. We detected a novel deletion (376delAAGGTGAGTGGGACTGCC) spanning 3 bp of exon 4 and 15 bp of the adjacent intronic sequence. This mutation causes premature termination of translation, resulting in a truncated protein devoid of nucleolar localization signal, and potential phosphorylation sites. Real\u2010time PCR analysis showed different melting temperatures of the amplified fragment containing normal allele and that harboring the 18 bp deletion, thus providing a rapid screening assay for this and other deletions of the<jats:italic>TCOF1<\/jats:italic>gene. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20312","type":"journal-article","created":{"date-parts":[[2003,10,30]],"date-time":"2003-10-30T11:22:03Z","timestamp":1067512923000},"page":"169-171","source":"Crossref","is-referenced-by-count":17,"title":["Novel mutation in the 5\u2032 splice site of exon 4 of the<i>TCOF1<\/i>gene in the patient with Treacher Collins syndrome"],"prefix":"10.1002","volume":"123A","author":[{"given":"Bozena","family":"Marszalek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Slawomir A.","family":"Wisniewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Wojcicki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Kobus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wieslaw H.","family":"Trzeciak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.3.223"},{"key":"e_1_2_6_3_1","first-page":"515","article-title":"The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon","volume":"60","author":"Edwards SJ","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ortho\/29.4.293"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1533"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1522-2683(200109)22:16<3539::AID-ELPS3539>3.0.CO;2-T"},{"key":"e_1_2_6_8_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u2122. 154500 [10\/31\/2000]. Baltimore MD: Johns Hopkins University.http:\/\/www.ncbi.nlm.nih.gov\/omim\/."},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200010)16:4<315::AID-HUMU4>3.0.CO;2-H"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.493"},{"key":"e_1_2_6_11_1","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng0296-130","article-title":"Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome","volume":"12","author":"Treacher Collins Syndrome Collaborative Group","year":"1996","journal-title":"Nature Genet"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3110"}],"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.20312","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T06:03:15Z","timestamp":1704952995000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,28]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1002\/ajmg.a.20312"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20312","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,28]]}}}