Primary Ciliary Dyskinesia: Integrating Genetics into Clinical Practice

Erin Cant, Amelia Shoemark, James D. Chalmers (Lead / Corresponding author)

    Research output: Contribution to journalReview articlepeer-review

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    Purpose of Review: Advances in molecular genetics have improved our understanding of primary ciliary dyskinesia. The purpose of this review is to describe the integration of genetics into clinical practice.

    Recent Findings: This review describes > 50 genes which have been identified to cause multiple motile ciliopathies. Known genotype–phenotype relationships are explored, including genes associated with worse prognosis (CCDC39, CCDC40, CCNO). Features which indicate referral for genetic testing such as a family history, situs defects and lifelong chronic upper and lower respiratory tract disease are described along with how genetics fits into current guidelines for diagnostic algorithms, and the potential challenges and advantages.

    Summary: As we move forward, the growing genomic knowledge about primary ciliary dyskinesia will aid diagnosis, understanding of prognosis and the establishment of future therapeutic trials.
    Original languageEnglish
    Pages (from-to)57-66
    Number of pages10
    JournalCurrent Pulmonology Reports
    Early online date16 Jan 2024
    Publication statusPublished - Mar 2024


    • Primary cilia dyskinesia
    • Motile ciliopathy
    • Genetics
    • Mucociliary clearance
    • Respiratory condition
    • Inherited disorder


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