{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:08:57Z","timestamp":1791824937863,"version":"4.3.4"},"reference-count":6,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary ciliary dyskinesia (PCD) is genetically and clinically heterogeneous. CCNO mutations are associated with chronic destructive lung disease and were first described in 2014. Early reports suggest that <jats:italic>CCNO<\/jats:italic> is mutated more frequently than expected, however, these are considered rare. We report on three eleven\u2010year\u2010old children with PCD due to <jats:italic>CCNO<\/jats:italic> mutations. All children presented early\u2010onset respiratory symptoms, no cardiac or situs anomalies and moderate to severe clinical courses. Patients 1 and 3 were admitted to a neonatal intensive care unit due to respiratory distress. Patients 1 and 2 had atelectasis and lobar collapse, for which lobectomy was performed for patient 1. Patient 3 also presented otitis media with effusion with conductive hearing loss, requiring tympanostomy tube insertion twice. Diagnosis of PCD for all three required repeated nasal brushings, delaying diagnostic confirmation. Microscopy analysis revealed severely decreased numbers of cilia, but normal ultrastructure and uncoordinated beat pattern in the residual cilia. Surprisingly, the prevalence of pathogenic <jats:italic>CCNO<\/jats:italic> variants in our centre is higher than expected (three out of sixteen patients). Pathogenic variants in PCD\u2010causing genes lead to specific ultrastructural defects, and there is a suggestion for genotype\u2010phenotype association. However, there are little longitudinal data evaluating the impact of specific defects on disease progression, but a recent study showed a worse lung disease and poorer nutritional status. Concluding, this report underlies the importance of patient\u2010oriented diagnosis and management in highly experienced PCD centres.<\/jats:p>","DOI":"10.1002\/ppul.25440","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T01:45:30Z","timestamp":1623203130000},"page":"2776-2779","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Primary ciliary dyskinesia due to CCNO mutations\u2014A genotype\u2010phenotype correlation contribution"],"prefix":"10.1002","volume":"56","author":[{"given":"Ana Raquel","family":"Henriques","sequence":"first","affiliation":[{"name":"Department of Paediatrics Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6596-1596","authenticated-orcid":false,"given":"Carolina","family":"Constant","sequence":"additional","affiliation":[{"name":"Paediatric Respiratory Unit, Department of Paediatrics Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"},{"name":"Paediatric Lung Function Laboratory, Department of Paediatrics Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"},{"name":"Lisbon Academic Medical Centre University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreia","family":"Descal\u00e7o","sequence":"additional","affiliation":[{"name":"Paediatric Lung Function Laboratory, Department of Paediatrics Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreia","family":"Pinto","sequence":"additional","affiliation":[{"name":"Histology and Comparative Pathology Unit, Institute of Molecular Medicine Jo\u00e3o Lobo Antunes, Lisbon Academic Medical Centre University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Moura Nunes","sequence":"additional","affiliation":[{"name":"Portuguese Institute of Oncology Francisco Gentil  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Sampaio","sequence":"additional","affiliation":[{"name":"Cilia Regulation and Disease Lab, iNOVA4HEALTH, CEDOC, NOVA Medical School Nova University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana S","family":"Lopes","sequence":"additional","affiliation":[{"name":"Cilia Regulation and Disease Lab, iNOVA4HEALTH, CEDOC, NOVA Medical School Nova University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00edsa","family":"Pereira","sequence":"additional","affiliation":[{"name":"Paediatric Respiratory Unit, Department of Paediatrics Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"},{"name":"Lisbon Academic Medical Centre University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6214-3117","authenticated-orcid":false,"given":"Teresa","family":"Bandeira","sequence":"additional","affiliation":[{"name":"Paediatric Respiratory Unit, Department of Paediatrics Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"},{"name":"Paediatric Lung Function Laboratory, Department of Paediatrics Hospital de Santa Maria\u2013Centro Hospitalar Universit\u00e1rio de Lisboa Norte  Lisbon Portugal"},{"name":"Lisbon Academic Medical Centre University of Lisbon  Lisbon Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2961"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22957"},{"key":"e_1_2_7_5_1","first-page":"235","article-title":"A new era in the diagnosis of primary ciliary dyskinesia","volume":"49","author":"Constant C","year":"2018","journal-title":"Acta Pediatr Port"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201803-0548oc"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24583"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.25440","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ppul.25440","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.25440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T23:12:01Z","timestamp":1692832321000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.25440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,8]]},"references-count":6,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/ppul.25440"],"URL":"https:\/\/doi.org\/10.1002\/ppul.25440","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,8]]},"assertion":[{"value":"2021-02-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}