{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T05:44:00Z","timestamp":1771652640447,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T00:00:00Z","timestamp":1743724800000},"content-version":"vor","delay-in-days":3,"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":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by abnormalities in the motile cilia. Diagnosis could be hard to make, but genetic analysis could be important for the diagnosis and for defining prognosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim of the Study<\/jats:title><jats:p>To evaluate the clinical, ultrastructural, and molecular characteristics of a cohort of PCD subjects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>The study cohort included PCD patients enrolled in two Italian centers. Clinical data were retrospectively collected consulting medical records. All patients underwent nasal brushing and peripheral blood sampling for ultrastructural analysis of motile cilia and genetic testing, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 39 patients with PCD were enrolled (median age 25.5 years, range 2.5\u201354.3 years). All patients showed common clinical features, which included SIT in 22\/39 (56.4%), chronic rhinitis in 31\/39 (79.5%), chronic sinusitis in 26\/37 (66.7%), chronic cough in 32\/39 (82.1%), and neonatal respiratory distress in 46.2% (18\/39). The genetic defect was identified in 27\/39 patients (69.2%), while a diagnostic ultrastructure was found in 27\/35 (77.1%). Assessing genotype\u2010phenotype correlations, subjects with biallelic pathogenic variants in <jats:italic>CCDC39<\/jats:italic> and <jats:italic>CCDC40<\/jats:italic> genes had a significantly lower forced expiratory volume in the first second of exhalation value (<jats:italic>p<\/jats:italic>\u2009=\u20090.017) than subjects with pathogenic variants in <jats:italic>DNAH5<\/jats:italic> or in other PCD\u2010related genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study further highlights the high heterogeneity of ultrastructural defects and genetics characterizing patients with PCD, as well as providing additional evidence that patients with biallelic pathogenic variants in <jats:italic>CCDC39 or CCDC40<\/jats:italic> display a worse clinical phenotype than patients with pathogenic variants in other PCD genes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.71057","type":"journal-article","created":{"date-parts":[[2025,4,5]],"date-time":"2025-04-05T13:26:06Z","timestamp":1743859566000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Genotype\u2010Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2430-2981","authenticated-orcid":false,"given":"Laura","family":"Petrarca","sequence":"first","affiliation":[{"name":"Maternal Infantile and Urological Sciences Department \u201cSapienza\u201d University of Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Guida","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8880-3462","authenticated-orcid":false,"given":"Raffaella","family":"Nenna","sequence":"additional","affiliation":[{"name":"Maternal Infantile and Urological Sciences Department \u201cSapienza\u201d University of Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"De Luca","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Goldoni","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Giulia","family":"Conti","sequence":"additional","affiliation":[{"name":"Maternal Infantile and Urological Sciences Department \u201cSapienza\u201d University of Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuseppe","family":"Cimino","sequence":"additional","affiliation":[{"name":"Policlinico Umberto I Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2756-0094","authenticated-orcid":false,"given":"Enrica","family":"Mancino","sequence":"additional","affiliation":[{"name":"Maternal Infantile and Urological Sciences Department \u201cSapienza\u201d University of Rome"},{"name":"Translational and Precision Medicine Department \u201cSapienza\u201d University of Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Masuelli","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine \u201cSapienza\u201d University of Rome  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6417-4216","authenticated-orcid":false,"given":"Piercarlo","family":"Poli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Regional support Centre for Cystic Fibrosis, Children's Hospital \u2013 ASST Spedali Civili University of Brescia Brescia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7476-5266","authenticated-orcid":false,"given":"Fabio","family":"Midulla","sequence":"additional","affiliation":[{"name":"Maternal Infantile and Urological Sciences Department \u201cSapienza\u201d University of Rome"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,4,4]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jproteome.6b00972"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8070730"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00725-2019"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(19)30374-1"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201409-1672OC"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01040-2018"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201803-0548OC"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2020.02.001"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.2910530622"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00135"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00001010"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00736-2016"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00714-2022"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200303-365OC"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00108410"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.016"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.011"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.26604"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2020.11.007"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200811-1731OC"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-020-02062-4"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.71057","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T11:28:45Z","timestamp":1745839725000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.71057"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/ppul.71057"],"URL":"https:\/\/doi.org\/10.1002\/ppul.71057","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4]]},"assertion":[{"value":"2024-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-04","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71057"}}