{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T02:19:18Z","timestamp":1780539558413,"version":"3.54.1"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T00:00:00Z","timestamp":1694995200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81788101"],"award-info":[{"award-number":["81788101"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Primary ciliary dyskinesia (PCD) is a genetic ciliopathy characterized by dysfunction of motile cilia. Currently, approximately 50 causative genes accounting for 60%\u201370% of all PCD cases have been identified in PCD\u2010affected individuals, but the etiology in approximately 30%\u201340% of PCD cases remains unknown.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed the clinical and genetic data of two PCD individuals who were suspected of having PCD. Whole\u2010exome sequencing and Sanger sequencing were performed to identify and verify the variants in <jats:italic>CFAP47<\/jats:italic>. We also evaluated the expression of CFAP47 by real\u2010time quantitative PCR and immunofluorescence. Transmission electron microscopy in respiratory epithelial cells was also conducted to analyze ciliary function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Two hemizygous missense variants of X\u2010linked <jats:italic>CFAP47<\/jats:italic> in two unrelated PCD individuals were identified. The expression of CFAP47 in two PCD individuals was significantly reduced in vivo and in vitro assays. A reduction in the amount of epithelial ciliary cells and basal bodies from PCD individuals was also observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We describe two hemizygous missense variants of X\u2010linked <jats:italic>CFAP47<\/jats:italic> in two unrelated PCD individuals and prove <jats:italic>CFAP47<\/jats:italic> variants are related to a reduced number of epithelial ciliary cells. Therefore, we suggest that <jats:italic>CFAP47<\/jats:italic> should be known as a novel pathogenic gene of human PCD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2278","type":"journal-article","created":{"date-parts":[[2023,9,19]],"date-time":"2023-09-19T05:40:32Z","timestamp":1695102032000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Mutations in <scp><i>CFAP47<\/i><\/scp>, a previously reported <scp>MMAF<\/scp> causative gene, also contribute to the respiratory defects in patients with <scp>PCD<\/scp>"],"prefix":"10.1002","volume":"12","author":[{"given":"Haijun","family":"Ge","sequence":"first","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wangji","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"He","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haixia","family":"Zheng","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyue","family":"Zhao","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chongsheng","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8274-7674","authenticated-orcid":false,"given":"Yaping","family":"Liu","sequence":"additional","affiliation":[{"name":"McKusick\u2010Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinlun","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital Chinese Academy of Medical Sciences &amp; 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