{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T02:18:56Z","timestamp":1790302736254,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,9,9]],"date-time":"2020-09-09T00:00:00Z","timestamp":1599609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004775","name":"Natural Science Foundation of Gansu Province","doi-asserted-by":"publisher","award":["18JR3RA036"],"award-info":[{"award-number":["18JR3RA036"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004775","name":"Natural Science Foundation of Gansu Province","doi-asserted-by":"publisher","award":["1606RJZA151"],"award-info":[{"award-number":["1606RJZA151"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004775","name":"Natural Science Foundation of Gansu Province","doi-asserted-by":"publisher","award":["1606RJZA159"],"award-info":[{"award-number":["1606RJZA159"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Treacher Collins syndrome (TCS) is a rare autosomal dominant or recessive disorder, that involves unique bilateral craniofacial malformations. The phenotypes of TCS are extremely diverse. Interventional surgery can improve hearing loss and facial deformity in TCS patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We recruited seven TCS families. Variant screening in probands was performed by targeted next\u2010generation sequencing (NGS). The variants identified were confirmed by Sanger sequencing. The pathogenicity of all the mutations was evaluated using the guidelines of the American College of Medical Genetics and Genomics (ACMG) and InterVar software.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three frameshift variants, two nonsense variants, one missense variant, and one splicing variant of <jats:italic>TCOF1<\/jats:italic> were identified in the seven TCS probands. Five variants including c.1393C\u00a0&gt;\u00a0T, c.4111\u00a0+\u00a05G&gt;C, c.1142delC, c.2285_2286delCT, and c.1719delG had not been previously reported. Furthermore, we report the c.149A\u00a0&gt;\u00a0G variant for the first time in a Chinese TCS patient. We provided prenatal diagnosis for family 4. Proband 7 chose interventional surgery.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified five novel variants in <jats:italic>TCOF1<\/jats:italic> in Chinese patients with TCS, which expands the mutation spectrum of <jats:italic>TCOF1<\/jats:italic> in TCS. Bone conduction hearing rehabilitation can improve hearing for TCS patients and prenatal diagnosis can provide fertility guidance for TCS families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23567","type":"journal-article","created":{"date-parts":[[2020,9,24]],"date-time":"2020-09-24T18:28:38Z","timestamp":1600972118000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mutation analysis of <i>TCOF1<\/i> gene in Chinese Treacher Collins syndrome patients"],"prefix":"10.1002","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4403-4830","authenticated-orcid":false,"given":"Chuan","family":"Zhang","sequence":"first","affiliation":[{"name":"Graduate School of Peking Union Medical College Beijing China"},{"name":"National Research Institute for Family Planning National Human Genetic Resources Center Beijing China"},{"name":"Gansu Province Medical Genetics Center Gansu Province Maternal and Child Health 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