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Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan.

Clinical genetics - 1 Feb 2025

Hijikata Minako, Morimoto Kozo, Ito Masashi, Wakabayashi Keiko, Miyabayashi Akiko, Yamada Hiroyuki, Keicho Naoto

Abstract excerpt

Primary ciliary dyskinesia (PCD; OMIM 244400) is a rare genetic disorder affecting motile cilia and is characterized by impaired mucociliary clearance in the airway epithelium that leads to chronic oto-sinopulmonary manifestations. To date, over 50 PCD-causing genes have been identified, with these genes and their variants varying globally across populations. We performed targeted resequencing of 42 PCD-causative...

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PMID: 39462806
DOI: 10.1111/cge.14640

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