{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T23:58:00Z","timestamp":1769039880196,"version":"3.49.0"},"reference-count":6,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T00:00:00Z","timestamp":1644278400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T00:00:00Z","timestamp":1644278400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is an inherited craniofacial defect. Here, we report a TCS family in which the members carry the same &lt;i&gt;POLR1D&lt;\/i&gt; variant but present with phenotypic variability. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; A 19-year-old healthy primigravida was revealed by ultrasound at 12 weeks of gestation to have a fetus with micrognathia. Prenatal genetic testing detected a heterozygous single-nucleotide deletion (NM_015972:c.91del, p.Q31Rfs*10) in the &lt;i&gt;POLR1D&lt;\/i&gt; gene, inherited from the healthy mother. Variants of &lt;i&gt;POLR1D&lt;\/i&gt; have been reported to be associated with TCS. Family studies found that a paternal healthy cousin of the mother had a similar pregnancy outcome, with a fetus of TCS and the same &lt;i&gt;POLR1D&lt;\/i&gt; variant. &lt;b&gt;&lt;i&gt;Discussion:&lt;\/i&gt;&lt;\/b&gt; Our study results pose a great challenge to prenatal diagnosis of TCS. The prenatal diagnosis cannot only rely on genetic testing. Instead, an early detailed sonographic survey will be helpful for the identification of TCS. <\/jats:p>","DOI":"10.1159\/000521173","type":"journal-article","created":{"date-parts":[[2022,2,8]],"date-time":"2022-02-08T22:00:44Z","timestamp":1644357644000},"page":"1-4","source":"Crossref","is-referenced-by-count":1,"title":["Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a &lt;b&gt;&lt;i&gt;POLR1D&lt;\/i&gt;&lt;\/b&gt; p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis"],"prefix":"10.1159","author":[{"given":"Yan-Dong","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Zhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,2,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cps.2018.11.005"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20004"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2014.03.006"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1995.01890050009002"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61359"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33454"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521173","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/521173","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:37:14Z","timestamp":1745422634000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000521173"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,8]]},"references-count":6,"URL":"https:\/\/doi.org\/10.1159\/000521173","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,8]]}}}