{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T08:11:08Z","timestamp":1758874268091,"version":"3.44.0"},"reference-count":50,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:00:00Z","timestamp":1758844800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Mol. Biosci."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Primary ciliary dyskinesia (PCD) is a rare hereditary disorder affecting mucociliary clearance due to ciliary dysfunction. This study aimed to confirm PCD diagnosis in clinically suspected Egyptian individuals and assess genotype-phenotype correlations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>73 PCD-suspected individuals underwent clinical examination, radiological evaluation (chest and sinus CT), and Next-Generation Sequencing (NGS) for a PCD multigene panel. Immunofluorescence (IF) analysis was used to confirm the pathogenicity of identified variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Consanguinity was reported in 91.9% of cases, with delayed diagnoses spanning 1\u201318 years. All individuals exhibited a chronic wet cough; 97.3% experienced nasal congestion, 86.5% chronic sinusitis, 75.7% recurrent otitis media, 37.8% finger clubbing, and 24.3% situs abnormalities. Bronchiectasis was demonstrated in 70.3%, and 18.9% had undergone lobectomies. 37 children carried 26 distinct variants in 16 PCD-related genes (50.7%). Defects were found in outer dynein arms (32%), central pair (19%), radial spokes (16%), ciliogenesis (14%), nexin-dynein regulatory complexes (11%), and other ciliary processes (8%). Moreover, IF analysis revealed the deficiency of corresponding ciliary proteins confirming the pathogenicity of the variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Genetic testing confirmed PCD in 50.7% of cases; based on published TEM-detectable ultrastructural defects, only 40.5% would likely have been detectable by TEM alone, highlighting the need for advanced diagnostics.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmolb.2025.1641739","type":"journal-article","created":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T07:53:05Z","timestamp":1758873185000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt"],"prefix":"10.3389","volume":"12","author":[{"given":"Hoda","family":"Rizk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rim","family":"Hjeij","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Al-Haggar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd","family":"Dworniczak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominik","family":"Otto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heike","family":"Olbrich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Engy","family":"Osman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarek","family":"Eldesoky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,9,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1038\/ng.727","article-title":"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left\u2013right axis formation","volume":"43","author":"Becker-Heck","year":"2011","journal-title":"Nat. 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