{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T06:56:17Z","timestamp":1792738577668,"version":"4.5.0"},"reference-count":36,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,25]],"date-time":"2019-11-25T00:00:00Z","timestamp":1574640000000},"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":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and objective<\/jats:title><jats:p>Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic, and laboratory findings and genetic analyses of these patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>This is a cohort study in which we analyzed the clinical characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole\u2010exome sequencing at our single center from a total of 265 patients with PCD within a 5\u2010year period.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic analysis revealed pathogenic variants in <jats:italic>DNAH5<\/jats:italic> (n\u2009=\u200912 individuals, 12 families), <jats:italic>CCDC40<\/jats:italic> (n\u2009=\u20099 individuals, six families), <jats:italic>RSPH4A<\/jats:italic> (n\u2009=\u20095 individuals, three families), <jats:italic>DNAH11<\/jats:italic> (n\u2009=\u20094 individuals, four families), <jats:italic>HYDIN<\/jats:italic> (n\u2009=\u20095 individuals, five\u00a0families), <jats:italic>CCNO<\/jats:italic> (n\u2009=\u20094 individuals, four families), <jats:italic>DNAI1<\/jats:italic> (n\u2009=\u20092 individuals, one family), <jats:italic>ARMC4<\/jats:italic> (n\u2009=\u20092 individuals, two families), <jats:italic>TTC25<\/jats:italic> (n\u2009=\u20091), <jats:italic>DNAH1<\/jats:italic> (n\u2009=\u20091), and <jats:italic>CCDC39<\/jats:italic> (n\u2009=\u20091) genes. Although not statistically significant, the age at diagnosis was lower (median: 3 years; range, 6 months\u20104 years) in patients with <jats:italic>CCNO<\/jats:italic> pathogenic variants due to the early reporting of symptoms, and the median body mass index (BMI) and BMI <jats:italic>z<\/jats:italic> scores were lower in patients at 18.7 and 16\u2009kg\/m<jats:sup>2<\/jats:sup>, and \u22120.78 and \u22121.2 with <jats:italic>CCDC40<\/jats:italic> and <jats:italic>CCNO<\/jats:italic> pathogenic variants, respectively. The median forced expiratory flow in 1\u2009second (FEV1%), forced vital capacity (FVC%), and forced expiratory flow (FEF)25\u201075% were 53%, 64%, and 28%, respectively; these parameters were also lower in the <jats:italic>CCDC40<\/jats:italic> group than in the other groups. There was no significant correlation between the genetic results and symptoms, radiologic findings, and microbiologic data of patients with PCD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In PCD, there was significant heterogeneity of lung disease, patients who had pathogenic variants in <jats:italic>CCNO<\/jats:italic> presented earlier, and those with <jats:italic>CCDC40<\/jats:italic> and <jats:italic>CCNO<\/jats:italic> had worse lung disease, and poorer nutritional status compared with the other subgroups. We hope that whole genotype\u2010phenotype and clinical relationships will be identified in PCD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.24583","type":"journal-article","created":{"date-parts":[[2019,11,25]],"date-time":"2019-11-25T18:01:30Z","timestamp":1574704890000},"page":"383-393","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey"],"prefix":"10.1002","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1405-8401","authenticated-orcid":false,"given":"Nagehan","family":"Emiralio\u011flu","sequence":"first","affiliation":[{"name":"Department of Pediatric Pulmonology, Faculty of Medicine Hacettepe University Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekim Z.","family":"Ta\u015fk\u0131ran","sequence":"additional","affiliation":[{"name":"Department of Medical 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