{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T09:13:27Z","timestamp":1788599607407,"version":"build-2803163510"},"reference-count":28,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","license":[{"start":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T00:00:00Z","timestamp":1780012800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Primary ciliary dyskinesia (PCD) is a severe sperm defect, leading to male infertility. PCD affects both respiratory function and sperm motility, as motile cilia and sperm flagella rely on axonemal architecture. Multiple morphological abnormalities of the sperm flagella (MMAF) is a distinct form of asthenoteratozoospermia, characterized by a heterogeneous spectrum of flagellar defects. In recent years, coiled-coil domain-containing (\n                    <jats:italic toggle=\"yes\">CCDC<\/jats:italic>\n                    ) genes have been shown to play crucial roles in both MMAF and PCD. In this study, a homozygous mutation in\n                    <jats:italic toggle=\"yes\">CCDC39<\/jats:italic>\n                    , c.1528-2A&gt;G, was identified in a patient of a consanguineous Chinese family presenting a typical PCD phenotype. Quantitative real-time polymerase chain reaction (qPCR) and immunofluorescence demonstrated a significant reduction in\n                    <jats:italic toggle=\"yes\">CCDC39<\/jats:italic>\n                    mRNA levels and loss of the expression of CCDC39 and other axoneme dynein proteins, respectively. Diff-Quik staining and semen analysis from the patient revealed severely reduced sperm motility, in addition to a pronounced MMAF phenotype. Severe axonemal disorganization and ultrastructural defects were consistent with the PCD phenotype in the patient, further suggesting that CCDC39 deficiency is linked to both infertility and systemic ciliary dysfunction. After intracytoplasmic sperm injection (ICSI) treatment, the CCDC39-deficient patient achieved a successful pregnancy. Overall, our findings clearly indicate that the c.1528-2A&gt;G mutation in\n                    <jats:italic toggle=\"yes\">CCDC39<\/jats:italic>\n                    is associated with the pathogenesis of both MMAF and PCD, thereby advancing genetic diagnosis, treatment, and prognosis related to\n                    <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                    fertilization (IVF) outcomes associated with the MMAF phenotype in PCD patients.\n                  <\/jats:p>","DOI":"10.4103\/aja2025117","type":"journal-article","created":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T07:00:10Z","timestamp":1780038010000},"page":"613-619","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["A homozygous splicing mutation in CCDC39 caused multiple morphological abnormalities of the flagella in an infertile man with primary ciliary dyskinesia"],"prefix":"10.4103","volume":"28","author":[{"given":"Wen","family":"Tao","sequence":"first","affiliation":[{"name":"School of Medicine, Anhui University of Science and Technology, Huainan 232001, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ming","family":"Li","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei 230031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Islam","family":"Uddin","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Di","family":"Yan","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Hua","family":"Jiang","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Bai","sequence":"additional","affiliation":[{"name":"Center for Reproduction and Genetics, Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei 230001, 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