{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T04:43:52Z","timestamp":1789274632499,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T00:00:00Z","timestamp":1652832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004001","name":"Guizhou Science and Technology Department","doi-asserted-by":"publisher","award":["(2019)1271"],"award-info":[{"award-number":["(2019)1271"]}],"id":[{"id":"10.13039\/501100004001","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oral\u2010facial\u2010digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in <jats:italic>CPLANE1<\/jats:italic> cause OFDS VI. In this study, we investigated a 26\u2010year\u2010old Chinese female patient who was 23<jats:sup>+1<\/jats:sup>\u00a0weeks pregnant. She had a history of adverse pregnancy outcomes with multiple foetal malformations. We performed ultrasonography and identified the foetus as having a posterior fossa Blake cyst and postaxial polydactyly. The patient decided to terminate her pregnancy, and further genetic molecular analysis was performed. We identified the aborted foetus as having postaxial polydactyly. Whole\u2010exome sequencing identified a missense variant (c.3599C&gt;T, p.A1200V) in exon 20 and a c.834+1G&gt;T variant in exon 7 of <jats:italic>CPLANE1<\/jats:italic> (NM_023073.3) in the foetus. Sanger sequencing confirmed that these variants came from the parents of the foetus. In this study, we investigated\u00a0a family with OFDS VI through genetic testing and bioinformatics analysis, which provided powerful help for prenatal diagnosis. Then, we demonstrated that the cell migration rate and the number of cilia were decreased after interference with <jats:italic>CPLANE1<\/jats:italic> expression in NIH\/3T3 cells. After <jats:italic>CPLANE1<\/jats:italic>\u00a0knockdown, the Hh signalling pathway was inhibited, and the Hh pathway activator SAG reversed the inhibitory effect. This is the first report of a family with OFDS VI in the Chinese population.<\/jats:p>","DOI":"10.1111\/jcmm.17326","type":"journal-article","created":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T08:55:24Z","timestamp":1652864124000},"page":"3213-3222","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Whole\u2010exome sequencing identified novel variants in <i>CPLANE1<\/i> that causes oral\u2010facial\u2010digital syndrome \u2165 by inducing primary cilia abnormality"],"prefix":"10.1111","volume":"26","author":[{"given":"Wen","family":"Qian","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center in Guizhou Province The Affiliated Hospital of Guizhou Medical University  Guiyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinlei","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center in Guizhou Province The Affiliated Hospital of Guizhou 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