{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:42Z","timestamp":1790768922445,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,8]],"date-time":"2019-11-08T00:00:00Z","timestamp":1573171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP18K08163"],"award-info":[{"award-number":["JP18K08163"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Diffuse panbronchiolitis (DPB) is a sinopulmonary disease mainly affecting Asian populations. Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder impairing ciliary structure and function. These two disorders are not easily distinguished by clinical signs and symptoms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In 105 Japanese patients with recurrent sinopulmonary infection, initially diagnosed with DPB, and 37 patients with recurrent airway infection diagnosed in adulthood, the deletion allele of <jats:italic>DRC1<\/jats:italic> or <jats:italic>CCDC164<\/jats:italic>, recently recognized as a pathogenic PCD gene variant, was searched using a multiplexed PCR\u2010based method, and the deletion breakpoints and other variants around the gene were determined by Sanger sequencing and targeted resequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A large homozygous deletion in <jats:italic>DRC1<\/jats:italic> was identified in three of the 142 patients. Furthermore, heterozygous carriers of the deletion with the same breakpoint were found with the allele frequency of 0.002 in the healthy Japanese population, indicating that this loss\u2010of\u2010function variant may be acting as a common mutation causing PCD in Japanese.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>PCD caused by the <jats:italic>DRC1<\/jats:italic> defect is not readily identified by either high\u2010speed video\u2010microscopy or ciliary ultrastructure analysis, posing significant difficulties in reaching a correct diagnosis without the aid of genetic tests. Careful investigation of the causes of sinopulmonary diseases is warranted in Asian populations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1033","type":"journal-article","created":{"date-parts":[[2019,11,8]],"date-time":"2019-11-08T08:08:56Z","timestamp":1573200536000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1\u20134 of <i>DRC1<\/i> in Japanese patients with recurrent sinopulmonary infection"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8232-9448","authenticated-orcid":false,"given":"Naoto","family":"Keicho","sequence":"first","affiliation":[{"name":"The Research Institute of Tuberculosis Japan Anti\u2010Tuberculosis Association Tokyo 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