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To date, over 50 PCD\u2010causing genes have been identified, with these genes and their variants varying globally across populations. We performed targeted resequencing of 42 PCD\u2010causative genes in 150 Japanese patients suspected of having PCD and identified pathogenic or likely pathogenic variants in 51 patients. Among these, 24 patients exhibited a homozygous deletion of <jats:italic>DRC1<\/jats:italic> exons 1\u20134, the most common cause of PCD in Japan. The allele frequency of this deletion was estimated at 0.0034 (95% CI: 0.0025\u20130.0044), based on bioinformatic analysis of 7906 whole\u2010genome sequences from the general Japanese population. Additionally, RNA sequencing of nasal samples supplemented in silico variant predictions, aiding in the identification of causative variants. Considering potential ethnic differences, it is essential to accumulate global data on these variants and their functional impacts.<\/jats:p>","DOI":"10.1111\/cge.14640","type":"journal-article","created":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T03:58:42Z","timestamp":1730087922000},"page":"219-223","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic Variants Supporting the Diagnosis of Primary Ciliary Dyskinesia in Japan"],"prefix":"10.1111","volume":"107","author":[{"given":"Minako","family":"Hijikata","sequence":"first","affiliation":[{"name":"Department of Pathophysiology and Host Defense The Research Institute of Tuberculosis, Japan Anti\u2010Tuberculosis Association  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kozo","family":"Morimoto","sequence":"additional","affiliation":[{"name":"Respiratory Disease Center Fukujuji Hospital, Japan Anti\u2010Tuberculosis Association  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masashi","family":"Ito","sequence":"additional","affiliation":[{"name":"Respiratory Disease Center Fukujuji Hospital, Japan Anti\u2010Tuberculosis Association  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Wakabayashi","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Host Defense The Research Institute of Tuberculosis, Japan Anti\u2010Tuberculosis Association  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akiko","family":"Miyabayashi","sequence":"additional","affiliation":[{"name":"Department of Pathophysiology and Host Defense The Research Institute of Tuberculosis, Japan Anti\u2010Tuberculosis Association  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Mycobacterium Reference and Research The Research Institute of Tuberculosis, Japan Anti\u2010Tuberculosis Association  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8232-9448","authenticated-orcid":false,"given":"Naoto","family":"Keicho","sequence":"additional","affiliation":[{"name":"The Research Institute of Tuberculosis, Japan Anti\u2010Tuberculosis Association  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-020-0209-6"},{"key":"e_1_2_9_3_1","volume-title":"GeneReviews","author":"Zariwala M. 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