The diagnosis of primary ciliary dyskinesia (PCD) can be challenging in patients with mutations in the HYDIN 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 HYDIN 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 HYDIN mutations.
Towards a practical tool to identify HYDIN genotype using high-speed videomicroscopy
Pifferi M;Maj D;Cudazzo A;Donzelli G;Di Cicco M;Valetto A;Peroni D;
2025-01-01
Abstract
The diagnosis of primary ciliary dyskinesia (PCD) can be challenging in patients with mutations in the HYDIN 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 HYDIN 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 HYDIN mutations.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
