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Exploring Rare Genetic Mutations in PCD: A Study of 8 Turkish Patients with Novel Gene Alterations Coupled by Their Ciliary Beat Frequency and Confocal Microscopy Analyses
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  • Oz E.,
  • Sercan Guloglu,
  • Arslan E.,
  • Ozgecan Kayalar,
  • Konyalilar N.,
  • Ela Erdem Eralp,
  • Zeynep Uyan,
  • Pinar Ata,
  • Cansin Sackesen,
  • Gokdemir Y.,
  • Bulent Karadag,
  • Saniye Girit,
  • Karahuseyinoglu S.,
  • Bayram H.,
  • Sezerman O.U.
Oz E.
Acibadem Universitesi

Corresponding Author:[email protected]

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Sercan Guloglu
Koc Universitesi
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Arslan E.
Marmara Universitesi
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Ozgecan Kayalar
Koc Universitesi
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Konyalilar N.
Koc Universitesi
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Ela Erdem Eralp
Marmara Universitesi
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Zeynep Uyan
Koc Universitesi
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Pinar Ata
Marmara Universitesi
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Cansin Sackesen
Koc Universitesi
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Gokdemir Y.
Marmara Universitesi
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Bulent Karadag
Marmara Universitesi
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Saniye Girit
Istanbul Medeniyet Universitesi
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Karahuseyinoglu S.
Koc Universitesi
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Bayram H.
Koc Universitesi
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Sezerman O.U.
Acibadem Universitesi
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Abstract

Primary ciliary dyskinesia is a rare genetic ciliopathy characterized by impaired clearance of the airway, leading to recurrent airway infections and various pulmonary conditions. The underlying cause of PCD is complex and involves diverse mechanisms. On one hand, advancements in genetic analysis techniques have significantly contributed to identifying the mutated genes associated with PCD, which in turn, can aid in understanding the variable clinical presentations of the disease. On the other hand, based on the mutated gene, disease manifestation may change and this makes it more challenging to establish a standardized diagnosis approach. Hence, it is important to approach it with a comprehensive perspective. In this study, 8 Turkish individuals with PCD were subjected to whole-exome sequencing (WES) analysis, as well as other diagnostic tests such as ciliary beat frequency measurement, immunofluorescence staining (IF), and confocal microscopy. The findings from this study not only contribute to the enlightenment of PCD aetiology but also emphasize the importance of a multidisciplinary approach when diagnosing and understanding this complex genetic disorder.
05 Nov 2023Submitted to Pediatric Pulmonology
06 Nov 2023Submission Checks Completed
06 Nov 2023Assigned to Editor
06 Nov 2023Review(s) Completed, Editorial Evaluation Pending
19 Nov 2023Reviewer(s) Assigned