{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T14:39:56Z","timestamp":1788878396568,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,3,9]],"date-time":"2005-03-09T00:00:00Z","timestamp":1110326400000},"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":[[2005,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Treacher Collins Syndrome (TCS) (OMIM 154500) is a congenital, craniofacial disorder inherited as an autosomal dominant trait. The responsible gene for TCS,<jats:italic>TCOF1<\/jats:italic>, was mapped to 5q32\u201033.1 and identified in 1996. Since then,<jats:italic>TCOF1<\/jats:italic>mutations in patients with TCS have been reported from Europe, North and South America, however, no TCS cases from an Asian country have been molecularly characterized. Here we report mutational analysis for 11 Japanese patients with TCS for the first time, and have identified<jats:italic>TCOF1<\/jats:italic>mutations in 9 of them. The mutations detected were various, but most likely all the mutations are predicted to result in a truncated gene product, known as treacle. One mutation frequently reported was included in our cases, but no missense mutations were detected. These findings are similar to those for the previous studies for TCS in other races. We have speculated about the molecular mechanisms of the mutations in most cases. Collectively, we have defined some of the characteristic molecular features commonly observed in TCS patients, irrespective of racial difference. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30357","type":"journal-article","created":{"date-parts":[[2005,3,10]],"date-time":"2005-03-10T15:17:36Z","timestamp":1110467856000},"page":"363-367","source":"Crossref","is-referenced-by-count":19,"title":["Mutational analysis of the<i>TCOF1<\/i>gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis"],"prefix":"10.1002","volume":"134A","author":[{"given":"Katsumi","family":"Horiuchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Ariga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotaka","family":"Fujioka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunihiro","family":"Kawashima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuhei","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroharu","family":"Igawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuneki","family":"Sugihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Sakiyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00214178"},{"key":"e_1_2_6_3_1","first-page":"907","article-title":"Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32\u201033.1","volume":"52","author":"Dixon MJ","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","first-page":"515","article-title":"The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature\u2010termination codon","volume":"60","author":"Edwards SJ","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(80)90429-8"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/ortho\/29.4.293"},{"key":"e_1_2_6_7_1","first-page":"143","article-title":"Mandibulo\u2010facial dysostosis: New hereditary syndrome","volume":"27","author":"Franceschetti A","year":"1949","journal-title":"Acta 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