{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:39Z","timestamp":1753869699083,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T00:00:00Z","timestamp":1709596800000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Treacher Collins \u0399 syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated respiratory tract infection and conductive hearing loss. Two cases of Treacher Collins syndrome with <jats:italic>TCOF1<\/jats:italic>(OMIM:606847) gene variations were reported in the article, with clinical characteristics, gene variants and the etiology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical data of two patients with Treacher Collins syndrome caused by <jats:italic>TCOF1<\/jats:italic> gene variation were retrospectively analyzed. The whole exome sequencing (WES) was performed to detect the pathogenic variants of <jats:italic>TCOF1<\/jats:italic> gene in the patients, and the verification of variants were confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Proband 1 presented with bilateral craniofacial deformities, conductive hearing loss and recurrent respiratory tract infection. Proband 2 showed bilateral craniofacial malformations with cleft palate, which harbored similar manifestations in her family. She died soon after birth due to dyspnea and feeding difficulties. WES identified two novel pathogenic variants of <jats:italic>TCOF1<\/jats:italic> gene in two probands, each with one variant. According to the American College of Medical Genetics and Genomics, the heterozygous variation NM_001371623.1: c.877del (p. Ala293Profs*34) of <jats:italic>TCOF1<\/jats:italic> gene was detected in Proband 1, which was evaluated as a likely pathogenic (LP) and de novo variant. Another variant found in Proband 2 was NM_001135243.1: c.1660_1661del (p. D554Qfs*3) heterozygous variation, which was evaluated as a pathogenic variation and the variant inherited from the mother. To date, the two variants have not been reported before.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study found two novel pathogenic variants of <jats:italic>TCOF1<\/jats:italic> gene and clarified the etiology of Treacher Collins syndrome. We also enriched the phenotypic spectrum of Treacher Collins syndrome and <jats:italic>TCOF1<\/jats:italic> gene variation spectrum in the Chinese population, and provided the basis for clinical diagnosis, treatment and genetic counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2405","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T07:35:50Z","timestamp":1709710550000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Two novel pathogenic variants in the <scp><i>TCOF1<\/i><\/scp> found in two Chinese cases of Treacher Collins syndrome"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5599-870X","authenticated-orcid":false,"given":"Dan\u2010Yan","family":"Zhuang","sequence":"first","affiliation":[{"name":"The Central Laboratory of Birth Defects Prevention and Control Women and Children's Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu\u2010Ni","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Neonatology Women and Children\u2019 s Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuo\u2010Jie","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Child Health Care Women and Children's Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3159-8848","authenticated-orcid":false,"given":"Min","family":"Xie","sequence":"additional","affiliation":[{"name":"The Central Laboratory of Birth Defects Prevention and Control Women and Children's Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2010Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Central Laboratory of Birth Defects Prevention and Control Women and Children's Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu\u2010Lu","family":"Yan","sequence":"additional","affiliation":[{"name":"The Central Laboratory of Birth Defects Prevention and Control Women and Children's Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie\u2010Wen","family":"Pan","sequence":"additional","affiliation":[{"name":"The Central Laboratory of Birth Defects Prevention and Control Women and Children's Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9309-6632","authenticated-orcid":false,"given":"Hai\u2010bo","family":"Li","sequence":"additional","affiliation":[{"name":"The Central Laboratory of Birth Defects Prevention and Control Women and Children's Hospital of Ningbo University  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,3,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00405-011-1649-0"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds528"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2022.03.020"},{"issue":"5","key":"e_1_2_10_5_1","first-page":"80","article-title":"A case report of neonatal Treacher Collins syndrome and literature review","volume":"23","author":"Deng Y.","year":"2015","journal-title":"Chinese Journal of Eugenics and Genetics"},{"issue":"1","key":"e_1_2_10_6_1","first-page":"17","article-title":"The gene for Treacher Collins syndrome maps to the long arm of chromosome 5","volume":"49","author":"Dixon M. 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