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Updated: Jun 14, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
Primary ciliary dyskinesia in a Japanese woman caused by a novel RSPH4A variant
Ryo Ogata1, Takashi Kido1, Noriho Sakamoto1
1Department of Respiratory Medicine, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, 852-8501, Japan.
Abstract:
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by ciliary dysfunction. We report the case of a 50-year-old Japanese woman with chronic cough, sinusitis, hearing loss, and bronchiectasis. High-speed video analysis of the nasal mucosa revealed reduced ciliary beat frequency and amplitude. Electron microscopy revealed normal cilia mixed with cilia lacking central microtubules. Genetic testing identified a homozygous RSPH4A variant (NM_001010892.3: c.1484C > A). RSPH4A variants account for approximately 3-4 % and <2 % of cases of PCD worldwide and in East Asia, respectively. This is the third reported case in Japan and the first reported case of the c.1484C > A variant.
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