{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T12:25:35Z","timestamp":1763641535378,"version":"3.40.4"},"reference-count":26,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2011]]},"abstract":"Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects. TCS is caused by mutations in the <i>TCOF1<\/i> gene and follows autosomal dominant inheritance. Recently, mutations in the <i>POLR1D <\/i>and<i> POLR1C<\/i> genes have also been identified to cause TCS. However, in a subset of patients no causative mutation could be found yet. Inter- and intrafamilial phenotypic variability is high as is the variety of mainly family-specific mutations identified throughout <i>TCOF1<\/i>. No obvious correlation between pheno- and genotype could be observed. The majority of described point mutations, small insertions and deletions comprising only a few nucleotides within <i>TCOF1<\/i> lead to a premature termination codon. We investigated a cohort of 112 patients with a tentative clinical diagnosis of TCS by multiplex ligation-dependent probe amplification (MLPA) to search for larger deletions not detectable with other methods used. All patients were selected after negative screening for mutations in <i>TCOF1<\/i>, <i>POLR1D<\/i> and <i>POLR1C<\/i>. In 1 patient with an unequivocal clinical diagnosis of TCS, we identified a 3.367 kb deletion. This deletion abolishes exon 3 and is the first described single exon deletion within <i>TCOF1<\/i>. On RNA level we observed loss of this exon which supposedly leads to haploinsufficiency of TREACLE, the nucleolar phosphoprotein encoded by <i>TCOF1.<\/i><\/jats:p>","DOI":"10.1159\/000335545","type":"journal-article","created":{"date-parts":[[2012,1,26]],"date-time":"2012-01-26T12:16:56Z","timestamp":1327580216000},"page":"53-59","source":"Crossref","is-referenced-by-count":17,"title":["First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome"],"prefix":"10.1159","volume":"2","author":[{"given":"J.","family":"Beygo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Buiting","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Seland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.-J.","family":"L\u00fcdecke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Hehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Lich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Prager","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.R.","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2012,1,26]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrg775"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2Fng.724"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.30010"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0603730103"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1601-6343.2007.00388.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.33.7.603"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F5.10.1533"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fnm1725"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2008.232"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.272.19.12824"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F7.11.1795"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.gene.2005.06.004"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186%2F1471-2350-10-136"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1597%2F1545-1569%282000%29037%3C0434%3ATCSCET%3E2.0.CO%3B2"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.gene.2003.11.027"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002%2F1098-1004%28200010%2916%3A4%3C315%3A%3AAID-HUMU4%3E3.0.CO%3B2-H"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.39.7.493"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20159"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5201260"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0296-130"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.a.33454"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1038%2Fejhg.2008.221"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0402492101"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.94.7.3110"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.271.51.32881"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddp054"}],"container-title":["Molecular 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