Novel Gene Variants Associated with Primary Ciliary Dyskinesia

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dc.authorid0000-0003-1536-2111
dc.authorid0000-0001-7045-5068
dc.contributor.authorEksi, Durkadin Demir
dc.contributor.authorYilmaz, Elanur
dc.contributor.authorBasaran, A. Erdem
dc.contributor.authorErduran, Gizem
dc.contributor.authorNur, Banu
dc.contributor.authorMihci, Ercan
dc.contributor.authorKaradag, Bulent
dc.date.accessioned2026-01-24T12:31:00Z
dc.date.available2026-01-24T12:31:00Z
dc.date.issued2022
dc.departmentAlanya Alaaddin Keykubat Üniversitesi
dc.description.abstractObjectives To determine the demographic, clinical, and genetic profile of Turkish Caucasian PCD cases. Methods Targeted next-generation sequencing (t-NGS) of 46 nuclear genes was performed in 21 unrelated PCD cases. Sanger sequencing confirmed of potentially disease-related variations, and genotype-phenotype correlations were evaluated. Results Disease-related variations were identified in eight different genes (CCDC39, CCDC40, CCDC151, DNAAF2, DNAAF4, DNAH11, HYDIN, RSPH4A) in 52.4% (11/21) of the cases. The frequency of variations for CCDC151, DNAH11, and DNAAF2 genes which were highly mutated genes in the cohort was 18% in 11 patients. Each of the remaining gene variations was detected once (9%) in different patients. The variants, p.R482fs*12 in CCDC151, p.E216* in DNAAF2, p.I317* in DNAAF4, p.L318P and p.R1865* in DNAH11, and p.N1505D and p.L1167P in HYDIN gene were identified as novel variations. Interestingly, varying phenotypic findings were identified even in patients with the same mutation, which once again confirmed that PCD has a high phenotypic heterogeneity and shows individual differences. Conclusion This t-NGS panel is potentially helpful for exact and rapid identification of reported/novel PCD-disease-causing variants to establish the molecular diagnosis of ciliary diseases.
dc.description.sponsorshipAkdeniz University Scientific Research Projects Council [TSA-2018-3522]; TUBITAK 2209/A, Turkey [1919B01100081]
dc.description.sponsorshipThis research was supported by Akdeniz University Scientific Research Projects Council (TSA-2018-3522) and TUBITAK 2209/A (project#1919B01100081), Turkey.
dc.identifier.doi10.1007/s12098-022-04098-z
dc.identifier.endpage691
dc.identifier.issn0019-5456
dc.identifier.issn0973-7693
dc.identifier.issue7
dc.identifier.pmid35239159
dc.identifier.scopus2-s2.0-85125593445
dc.identifier.scopusqualityQ1
dc.identifier.startpage682
dc.identifier.urihttps://doi.org/10.1007/s12098-022-04098-z
dc.identifier.urihttps://hdl.handle.net/20.500.12868/5583
dc.identifier.volume89
dc.identifier.wosWOS:000764005400002
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer India
dc.relation.ispartofIndian Journal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20260121
dc.subjectPrimary ciliary dyskinesia
dc.subjectTargeted next-generation sequencing
dc.subjectMutation analysis
dc.subjectCiliary diseases
dc.titleNovel Gene Variants Associated with Primary Ciliary Dyskinesia
dc.typeArticle

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