{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:09:27Z","timestamp":1753870167017,"version":"3.41.2"},"reference-count":5,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T00:00:00Z","timestamp":1730160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Reduced generation of multiple motile cilia (RGMC) represents a rare variant of Primary Ciliary Dyskinesia (PCD), associated with <jats:italic>CYCLIN\u2010O (CCNO)<\/jats:italic> mutations. We report a novel compound mutation in the <jats:italic>CCNO<\/jats:italic> gene in an adult Chinese Singaporean exhibiting chronic productive cough since childhood and recurrent sino\u2010pulmonary infections. Low nasal nitric oxide and bronchiectasis suggests PCD. Bronchoscopy for epithelial and nasal brushings for ciliary studies were repeated after adequate treatment of lower respiratory tract infections. Demonstration of oligo\u2010cilia via transmission electron microscopy, and detection of <jats:italic>CCNO<\/jats:italic> mutation through genetic analysis were utilized to diagnose RGMC. Repeated courses of antibiotics including nebulised antibiotics were used to treat recurrent infections and exacerbations. Airway clearance techniques, immunizations and collaboration with otorhinolaryngologist form part of the long\u2010term management. Heightened clinical suspicion and adherence to established diagnostic algorithms are essential for timely recognition of this entity.<\/jats:p>","DOI":"10.1002\/rcr2.70057","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T07:32:01Z","timestamp":1730187121000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel <scp>CYCLIN<\/scp>\u2010O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-7082-9246","authenticated-orcid":false,"given":"Kim Hoong","family":"Yap","sequence":"first","affiliation":[{"name":"Department of Respiratory &amp; Critical Care Medicine Tan Tock Seng Hospital  Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert Yick Hou","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Respiratory &amp; Critical Care Medicine Tan Tock Seng Hospital  Singapore"},{"name":"Lee Kong Chian School of Medicine Nanyang Technological University  Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biju","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Paediatric Respiratory Medicine KK Women's and Children's Hospital  Singapore"},{"name":"Duke\u2010NUS Medical School  Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carine","family":"Bonnard","sequence":"additional","affiliation":[{"name":"Model Development, A*STAR Skin Research Labs (A*SRL) Agency for Science, Technology and Research (A*STAR)  Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Szenker\u2010Ravi","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics &amp; Therapeutics, Center of Excellence for Smart Health, BESE King Abdullah University of Science and Technology (KAUST)  Thuwal Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan Ling","family":"Chong","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology (IMCB) Agency for Science, Technology and Research (A*STAR)  Proteos Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudipto","family":"Roy","sequence":"additional","affiliation":[{"name":"Institute of Molecular and Cell Biology (IMCB) Agency for Science, Technology and Research (A*STAR)  Proteos Singapore"},{"name":"Department of Pediatrics, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Reversade","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics &amp; Therapeutics, Center of Excellence for Smart Health, BESE King Abdullah University of Science and Technology (KAUST)  Thuwal Saudi Arabia"},{"name":"Department of Physiology, Yong Loo Lin School of Medicine National University of Singapore  Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,10,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chpulm.2023.100004"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00629-2017"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2961"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22957"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.70057","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,26]],"date-time":"2024-11-26T03:00:59Z","timestamp":1732590059000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.70057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,29]]},"references-count":5,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/rcr2.70057"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.70057","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"type":"print","value":"2051-3380"},{"type":"electronic","value":"2051-3380"}],"subject":[],"published":{"date-parts":[[2024,10,29]]},"assertion":[{"value":"2024-08-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70057"}}