{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T02:25:56Z","timestamp":1793672756737,"version":"4.5.1"},"reference-count":21,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,4,1]],"date-time":"2025-04-01T00:00:00Z","timestamp":1743465600000},"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":["Science Progress"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>\n                    Treacher Collins Syndrome (TCS) is a congenital disorder characterized by craniofacial malformations. In this case, a novel likely pathogenic nonsense variant, in the\n                    <jats:italic toggle=\"yes\">TCOF1<\/jats:italic>\n                    gene, associated with TCS, was reported. Genetic analysis was performed on an Ecuadorian participant (Subject A) and his mother (Subject B), both of whom exhibited characteristic features of TCS. Next-generation sequencing (NGS) identified a single nucleotide variant (c.4423A\u2009&gt;\u2009T) in exon 25 of the\n                    <jats:italic toggle=\"yes\">TCOF1<\/jats:italic>\n                    gene, resulting in a premature stop codon (p.(Lys1475Ter)) and a truncated treacle protein. The likely pathogenic variant presented in Subjects A and B could alter critical functions of the protein, contributing to the craniofacial malformations of the subjects. The variant informed in this case report contributes to the knowledge of\n                    <jats:italic toggle=\"yes\">TCOF1<\/jats:italic>\n                    gene variants associated with TCS and highlights the importance of genomic screening for accurate diagnosis and improved clinical management in patients and families.\n                  <\/jats:p>","DOI":"10.1177\/00368504251338915","type":"journal-article","created":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T07:32:05Z","timestamp":1747726325000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel nonsense mutation in the TCOF1 gene associated with treacher collins syndrome: A case report"],"prefix":"10.1177","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8463-6046","authenticated-orcid":false,"given":"Santiago","family":"Cadena-Ullauri","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9059-3281","authenticated-orcid":false,"given":"Rafael","family":"Tamayo-Trujillo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0062-6030","authenticated-orcid":false,"given":"Elius","family":"Paz-Cruz","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4829-3653","authenticated-orcid":false,"given":"Patricia","family":"Guevara-Ram\u00edrez","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9301-2614","authenticated-orcid":false,"given":"Viviana A","family":"Ruiz-Pozo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando Agama","family":"Cuenca","sequence":"additional","affiliation":[{"name":"Hospital General Enrique Garc\u00e9s"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4102-3965","authenticated-orcid":false,"given":"Ana Karina","family":"Zambrano","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Gen\u00e9tica y Gen\u00f3mica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,5,20]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.6782"},{"key":"e_1_3_3_3_2","unstructured":"NORD. Treacher Collins Syndrome https:\/\/rarediseases.org\/rare-diseases\/treacher-collins-syndrome\/ (2023 accessed 9 March 2025)."},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091392"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.5005\/jp-journals-10005-1116"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"e_1_3_3_7_2","unstructured":"FDNA. Face2Gene Technology https:\/\/www.face2gene.com\/technology-facial-recognition-feature-detection-phenotype-analysis\/ (2025 accessed 9 March 2025)."},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-45723-w"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1573"},{"key":"e_1_3_3_10_2","article-title":"Mutation analysis of TCOF1 gene in Chinese treacher Collins syndrome patients","volume":"35","author":"Zhang C","year":"2021","unstructured":"Zhang C, An L, Xue H, et al. Mutation analysis of TCOF1 gene in Chinese treacher Collins syndrome patients. J Clin Lab Anal 2021; 35: e23567.","journal-title":"J Clin Lab Anal"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00388.x"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1136-z"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2013.05.013"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-024-01828-4"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12964-021-00741-y"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2014.05.001"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddad072"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.26875\/ajhi112017vi"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00438-017-1384-3"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-12-125"},{"key":"e_1_3_3_21_2","article-title":"A possible incomplete form of treacher Collins syndrome: a case report","volume":"14","author":"Tarang T","year":"2022","unstructured":"Tarang T, Vagha K, Kiran A, et al. A possible incomplete form of treacher Collins syndrome: a case report. Cureus 2022; 14: e30203.","journal-title":"Cureus"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201260"}],"container-title":["Science Progress"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00368504251338915","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/00368504251338915","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/00368504251338915","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T11:15:54Z","timestamp":1777634154000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/00368504251338915"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1177\/00368504251338915"],"URL":"https:\/\/doi.org\/10.1177\/00368504251338915","relation":{},"ISSN":["0036-8504","2047-7163"],"issn-type":[{"value":"0036-8504","type":"print"},{"value":"2047-7163","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4]]},"article-number":"00368504251338915"}}