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Computed tomography revealed bilateral fusion of the anterior and posterior stapedial crura and malformation of the long crura of the incus. WES of both patients revealed a novel heterozygous intronic variant, i.e., c.4342\u2009+\u20095_4342\u2009+\u20098delGTGA (NM_001371623.1) in <jats:italic>TCOF1<\/jats:italic>. Minigene expression analysis revealed that the c.4342\u2009+\u20095_4342\u2009+\u20098delGTGA variant in <jats:italic>TCOF1<\/jats:italic> caused a partial deletion of exon 24 (c.4115_4342del: p.Gly1373_Arg1448del), which was predicted to yield a truncated protein. The deletion was further confirmed via RT-PCR and sequencing of DNA from proband blood cells. A heterozygous variant in the <jats:italic>POLR1C<\/jats:italic> gene (NM_203290; exon6; c.525delG) was found almost co-segregated with the <jats:italic>TCOF1<\/jats:italic> pathogenic variant.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In conclusion, we identified a heterozygous <jats:italic>TCOF1<\/jats:italic> splicing variant c.4342\u2009+\u20095_4342\u2009+\u20098delGTGA (splicing) in a Chinese TSC family with ossicular chain malformations and facial anomalies. Our findings broadened the spectrum of TCS variants and will facilitate diagnostics and prognostic predictions.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-024-01828-4","type":"journal-article","created":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T11:02:04Z","timestamp":1710759724000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome"],"prefix":"10.1186","volume":"17","author":[{"given":"Haojie","family":"Sun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinda","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Binjun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanmei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jihan","family":"Lyu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luo","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasheng","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongdong","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,3,18]]},"reference":[{"key":"1828_CR1","doi-asserted-by":"publisher","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"RJ Gorlin","year":"2001","unstructured":"Gorlin RJ, Cohen MM Jr, Hennekam RC. 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