{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T02:08:47Z","timestamp":1761962927732,"version":"3.40.5"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T00:00:00Z","timestamp":1658534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2017A020214016"],"award-info":[{"award-number":["2017A020214016"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal recessive disorder, remain elusive for ~20%\u201335% of patients with complex and abnormal clinical phenotypes. Our study aimed to identify causative variants of PCD\u2010associated pathogenic candidate genes using whole\u2010exome sequencing (WES). All patients were diagnosed with PCD based on clinical phenotype or transmission electron microscopy images of cilia. WES and bioinformatic analysis were then conducted on patients with PCD. Identified candidate variants were validated by Sanger sequencing. Pathogenicity of candidate variants was then evaluated using in silico software and the American College of Medical Genetics and Genomics (ACMG) database. In total, 13 rare variants were identified in patients with PCD, among which were three homozygous causative variants (including one splicing variant) in the PCD\u2010associated genes <jats:italic>CCDC40<\/jats:italic> and <jats:italic>DNAI1<\/jats:italic>. Moreover, two stop\u2010gain heterozygous variants of <jats:italic>DNAAF3<\/jats:italic> and <jats:italic>DNAH1<\/jats:italic> were classified as pathogenic variants based on the ACMG criteria. This study identified novel potential pathogenic genetic factors associated with PCD. Noteworthy, the patients with PCD carried multiple rare causative gene variants, thereby suggesting that known causative genes along with other functional genes should be considered for such heterogeneous genetic disorders.<\/jats:p>","DOI":"10.1002\/ajmg.a.62912","type":"journal-article","created":{"date-parts":[[2022,7,23]],"date-time":"2022-07-23T12:58:30Z","timestamp":1658581110000},"page":"3024-3031","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Pathogenic variants identified using whole\u2010exome sequencing in <scp>Chinese<\/scp> patients with primary ciliary dyskinesia"],"prefix":"10.1002","volume":"188","author":[{"given":"Yutian","family":"Ye","sequence":"first","affiliation":[{"name":"Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital  Shenzhen 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Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengguo","family":"Liu","sequence":"additional","affiliation":[{"name":"Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangxia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern University of Science and Technology, The Second Clinical Medical College of Jinan University, Shenzhen People's Hospital  Shenzhen Guangdong China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rongchang","family":"Chen","sequence":"additional","affiliation":[{"name":"Shenzhen Institute of Respiratory Disease, The First Affiliated Hospital of Southern 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