{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:44Z","timestamp":1790768924426,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T00:00:00Z","timestamp":1634688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81901541"],"award-info":[{"award-number":["81901541"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81971441"],"award-info":[{"award-number":["81971441"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Reduced generation of multiple motile cilia (RGMC) and the consequent primary ciliary dyskinesia (PCD) cause infertility due to a substantial reduction in the number of multiciliated cells (MCCs) in the efferent ducts (EDs)\/oviducts.\n                    <jats:italic>MCIDAS<\/jats:italic>\n                    acts upstream of\n                    <jats:italic>CCNO<\/jats:italic>\n                    to regulate the biogenesis of basal bodies (BBs); therefore, both genes play a vital role in the multiciliogenesis of the reproductive tract epithelium. In this study, whole\u2010exome sequencing was performed to identify the causative genes in 10 unrelated infertile patients with PCD: seven males and three females. Notably, homozygous frameshift mutations in MCIDAS (c.186dupT, p.Pro63Serfs*22) and CCNO (c.262_263insGGCCC, p.Gln88Argfs*8) were identified in one male and one female participant from two unrelated consanguineous families. Haematoxylin\u2013eosin staining\/scanning electron microscopy revealed abnormal MCCs in the mutated EDs\/oviducts. Furthermore, transmission electron microscopy revealed significantly reduced BBs. Immunofluorescence staining showed the absence of MCIDAS and CCNO signals in the affected tissues and confirmed that\n                    <jats:italic>MCIDAS<\/jats:italic>\n                    acts upstream of\n                    <jats:italic>CCNO<\/jats:italic>\n                    in the context of multiciliogenesis in the reproductive tract epithelium.\n                    <jats:italic>In vitro<\/jats:italic>\n                    fertilization (IVF)\/intracytoplasmic sperm injection (ICSI) was successful, with a positive pregnancy outcome in both\n                    <jats:italic>MCIDAS\u2010<\/jats:italic>\n                    and\n                    <jats:italic>CCNO\u2010<\/jats:italic>\n                    mutated patients. Our results support the use of IVF\/ICSI interventions to treat infertility due to RGMC in couples.\n                  <\/jats:p>","DOI":"10.1111\/cge.14067","type":"journal-article","created":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T18:30:12Z","timestamp":1632767412000},"page":"731-742","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Bi\u2010allelic mutations in\n                    <scp>\n                      <i>MCIDA<\/i>\n                      S\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>CCNO<\/i>\n                    <\/scp>\n                    cause human infertility associated with abnormal gamete transport"],"prefix":"10.1111","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7912-1424","authenticated-orcid":false,"given":"Cong","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Obstetrics and 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Genetics Anhui Medical University  Hefei Anhui China"},{"name":"Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center Anhui Medical University  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiru","family":"Cheng","sequence":"additional","affiliation":[{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics Anhui Medical University  Hefei Anhui China"},{"name":"Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Provincial Institute of Translational Medicine Anhui Medical University  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junqiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics Anhui Medical University  Hefei Anhui China"},{"name":"Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Provincial Institute of Translational Medicine Anhui Medical University  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Geng","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Province Key Laboratory of Reproductive Health and Genetics Anhui Medical University  Hefei Anhui China"},{"name":"Biopreservation and Artificial Organs, Anhui Provincial Engineering Research Center Anhui Medical University  Hefei Anhui China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiyuan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The First Affiliated Hospital of Anhui Medical University  Hefei Anhui China"},{"name":"Anhui Province Key Laboratory of 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