{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:48Z","timestamp":1790768928619,"version":"4.1.0"},"reference-count":33,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T00:00:00Z","timestamp":1691020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T00:00:00Z","timestamp":1691020800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Primary ciliary dyskinesia (PCD) is a rare autosomal\u2010recessive disease manifested with recurrent infections of respiratory tract and infertility.\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    is identified as a novel gene associated with PCD and different mutations in\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    results in different clinical features of PCD patients, such as situs inversus, sinusitis and bronchiectasis. However, the sperm phenotypic characteristics of PCD males are generally poorly investigated. Our reproductive medicine centre received a case of PCD patient with infertility, who presented with sinusitis, recurrent infections of the lower airway and severe asthenozoospermia; However, no situs inversus was found in the patient. A novel homozygous mutation in\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    (c.551T&gt;A; p.V184E) was identified in the PCD patient by whole\u2010exome sequencing. Subsequent Sanger sequencing further confirmed that the\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    had a homozygous missense variant in the fifth exon. Transmission electron microscopy and immunostaining analysis of the sperms from the patient showed a complete absence of outer dynein arms and partial absence of inner dynein arms, which resulted in the reduction in sperm motility. However, this infertility was overcome by intracytoplasmic sperm injections, as his wife achieved successful pregnancy. These findings showed that the PCD\u2010associated pathogenic mutation within\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    also causes severe asthenozoospermia and male infertility ultimately due to sperm flagella axoneme defect in humans. Our study not only contributes to understand the sperm phenotypic characteristics of patients with\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    mutations but also expands the spectrum of\n                    <jats:italic>DNAAF3<\/jats:italic>\n                    mutations and may contribute to the genetic diagnosis and therapy for infertile patient with PCD.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.17881","type":"journal-article","created":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T00:27:59Z","timestamp":1691108879000},"page":"3107-3116","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A novel mutation in\n                    <scp>PCD<\/scp>\n                    \u2010associated gene\n                    <i>DNAAF3<\/i>\n                    causes male infertility due to asthenozoospermia"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2834-0448","authenticated-orcid":false,"given":"Feng","family":"Wan","sequence":"first","affiliation":[{"name":"The Reproductive Medicine Center Henan Provincial People's Hospital  Zhengzhou China"},{"name":"The Reproductive Medicine Center People's Hospital of Zhengzhou University  Zhengzhou China"},{"name":"The Reproductive Medicine Center Henan Provincial People's Hospital of Henan University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lan","family":"Yu","sequence":"additional","affiliation":[{"name":"The Reproductive Medicine Center Henan Provincial People's Hospital  Zhengzhou China"},{"name":"The Reproductive Medicine Center People's Hospital of Zhengzhou University  Zhengzhou China"},{"name":"The Reproductive Medicine Center Henan Provincial People's Hospital of Henan University  Zhengzhou 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