{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T21:31:08Z","timestamp":1792186268340,"version":"4.4.0"},"reference-count":20,"publisher":"BMJ","issue":"3","funder":[{"DOI":"10.13039\/501100001691","name":"The Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["22K08297"],"award-info":[{"award-number":["22K08297"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001691","name":"The Japan Society for the Promotion of Science","doi-asserted-by":"crossref","award":["23K07616"],"award-info":[{"award-number":["23K07616"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Ministry of Health, Labor and Welfare of Japan"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2024,12,31]]},"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>Primary ciliary dyskinesia (PCD, OMIM 244400) is a rare genetic disorder that affects motile cilia and is characterised by impaired mucociliary clearance of the airway epithelium, which results in chronic upper and lower airway infections. While short-read next-generation sequencing technology has been used for the genetic testing of PCD, its effectiveness is limited in identifying variants in the <jats:italic>HYDIN<\/jats:italic> gene because of the nearly identical pseudogene <jats:italic>HYDIN2<\/jats:italic>. As we confirmed that the <jats:italic>HYDIN2<\/jats:italic> gene was not expressed in airway cells, we obtained nasal mucosa biopsy specimens for total RNA sequencing (RNA-seq) with library enrichment using exome oligos. Among the 34 nasal samples from patients suspected of having PCD, three aberrant splicing patterns in <jats:italic>HYDIN<\/jats:italic> were identified in two samples. Variant calls from RNA-seq combined with long-read amplicon sequencing of genomic DNA detected four pathogenic variants exclusively in the <jats:italic>HYDIN<\/jats:italic> gene. Therefore, RNA-seq in combination with long-read sequencing significantly facilitates the accurate genetic diagnosis of PCD caused by <jats:italic>HYDIN<\/jats:italic> variants.<\/jats:p>","DOI":"10.1136\/jmg-2024-110400","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T13:20:23Z","timestamp":1736774423000},"page":"180-184","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Robust detection of pathogenic <i>HYDIN<\/i> variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa"],"prefix":"10.1136","volume":"62","author":[{"given":"Minako","family":"Hijikata","sequence":"first","affiliation":[{"name":"Department of Pathophysiology and Host Defense, Japan Anti-Tuberculosis Association Research Institute of Tuberculosis, Kiyose, Tokyo, 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