Towards a practical tool to identify <i>HYDIN</i> genotype using high-speed videomicroscopy
The diagnosis of primary ciliary dyskinesia (PCD) can be challenging in patients with mutations in the <i>HYDIN</i> gene, despite using electron microscopy tomography and ciliary motion analysis. Also, mutational analysis is hindered by a paralogous copy of the gene. Because there is a subtle reduction in bending capacity, occasionally a rotatory movement, but normal beat frequencies, we assessed if the combination of these changes could be diagnostic of PCD with <i>HYDIN</i> gene mutations. We developed a practical predictive tool using artificial intelligence which can be used to select patients who should be evaluated in detail for <i>HYDIN</i> mutations.
Authors
- Debora Maj
- Angelo Valetto (ORCID: https://orcid.org/0000-0003-2447-9952)
- Alessandro Cudazzo (ORCID: https://orcid.org/0000-0001-6794-6691)
- Andrew Bush (ORCID: https://orcid.org/0000-0001-6756-9822)
- Gabriele Donzelli (ORCID: https://orcid.org/0000-0002-3365-3732)
- Angela Michelucci (ORCID: https://orcid.org/0000-0003-0173-325X)
- Diego Giampietro Peroni (ORCID: https://orcid.org/0000-0002-0234-1373)
- Massimo Pifferi (ORCID: https://orcid.org/0000-0002-8266-1923)
- Maria Di Cicco (ORCID: https://orcid.org/0000-0002-7027-6817)
- Attilio Boner
Institutions
- University of Pisa (IT)
- University of Verona (IT)
- Royal Brompton Hospital (GB)
- Istituto di Fisiologia Clinica (IT)
- National Research Council (IT)
- Azienda Ospedaliera Universitaria Pisana (IT)
- Imperial College London (GB)
Publication Details
- Journal
- Thorax
- Published
- 2025-10-09
- DOI
- https://doi.org/10.1136/thorax-2025-223584
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00