{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T03:54:51Z","timestamp":1783396491109,"version":"3.54.6"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"vor","delay-in-days":273,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by defects in various genes affecting ciliary function. It is currently unclear why\n                      <jats:italic>DRC1<\/jats:italic>\n                      gene variants are a relatively frequent cause of disease in Japanese and Korean patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A 12\u2010year\u2010old Japanese girl with bronchiectasis was suspected of PCD and examined using whole\u2010exome sequencing (WES). The breakpoint region was confirmed by Sanger sequencing and evaluation of transposable elements.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Whole\u2010exome sequencing revealed a deletion of\n                      <jats:italic>DRC1<\/jats:italic>\n                      exons 1\u20134 in the patient, followed by validation with Sanger sequencing. A\n                      <jats:italic>DRC1<\/jats:italic>\n                      exon 1\u20134 deletion is recurrently observed in Japanese and Korean patients with PCD. All reported patients carry the same breakpoint region, which shows signs of\n                      <jats:italic>Alu<\/jats:italic>\n                      \u2010mediated recombination. Intriguingly, common haplotypes were observed around the\n                      <jats:italic>DRC1<\/jats:italic>\n                      gene in Japanese and Korean patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The recurrent\n                      <jats:italic>DRC1<\/jats:italic>\n                      exon 1\u20134 deletion is therefore likely to be a founder variant and should be considered a major genetic cause of PCD in Japanese and Korean patients with PCD.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ped.15808","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T22:44:34Z","timestamp":1727736274000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A case of primary ciliary dyskinesis with\n                    <i>DRC1<\/i>\n                    deletion and literature review: Additional evidence on the founder effect"],"prefix":"10.1111","volume":"66","author":[{"given":"Ayami","family":"Ohya","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"},{"name":"Royal College of Surgeons in Ireland  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Tomomasa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumiaki","family":"Sakura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Sciences  Hiroshima Japan"},{"name":"Kazusa DNA Research Institute  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takaki","family":"Asano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Sciences  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Arisaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokyo Metropolitan Bokutoh Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takumi","family":"Akashi","sequence":"additional","affiliation":[{"name":"Department of Pathology Tokyo Medical and Dental University  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menno C.","family":"van Zelm","sequence":"additional","affiliation":[{"name":"Allergy and Clinical Immunology Laboratory, Department of Immunology, Central Clinical School Monash University  Melbourne Victoria Australia"},{"name":"Allergy, Asthma, and Clinical Immunology Service Alfred Hospital  Melbourne Victoria Australia"},{"name":"Department of Immunology, Erasmus MC University Medical Center  Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Morio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Sciences  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8696-9378","authenticated-orcid":false,"given":"Hirokazu","family":"Kanegane","sequence":"additional","affiliation":[{"name":"Department of Child Health and Development, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo 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