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Towards a practical tool to identify HYDIN genotype using high-speed videomicroscopy.

Thorax - 15 Dec 2025

Pifferi Massimo, Boner Attilio, Maj Debora, Cudazzo Alessandro, Michelucci Angela, Donzelli Gabriele, Di Cicco Maria, Valetto Angelo, Peroni Diego, Bush Andrew

Abstract excerpt

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...

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Identifiers

PMID: 41073067
DOI: 10.1136/thorax-2025-223584

Genes

HYDIN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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