Towards a practical tool to identify <i>HYDIN</i> genotype using high-speed videomicroscopy.

Abstract

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.