{"title":"Primary ciliary dyskinesia in a Japanese woman caused by a novel RSPH4A variant","authors":"Ryo Ogata , Takashi Kido , Noriho Sakamoto , Ritsuko Murakami , Takatomo Tokito , Hirokazu Yura , Hiroshi Ishimoto , Takashi Suematsu , Kazuhiko Takeuchi , Hiroshi Mukae","doi":"10.1016/j.resinv.2025.04.007","DOIUrl":null,"url":null,"abstract":"<div><div>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 <em>RSPH4A</em> variant (NM_001010892.3: c.1484C > A). <em>RSPH4A</em> 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.</div></div>","PeriodicalId":20934,"journal":{"name":"Respiratory investigation","volume":"63 4","pages":"Pages 507-509"},"PeriodicalIF":2.0000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Respiratory investigation","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2212534525000498","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/21 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"RESPIRATORY SYSTEM","Score":null,"Total":0}
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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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