{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T14:37:59Z","timestamp":1787841479482,"version":"build-2784847793"},"reference-count":23,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The cause of asthenozoospermia (AZS) is not well understood because of its complexity and heterogeneity. Although some gene mutations have been identified as contributing factors, they are only responsible for a small number of cases. Radial spokes (RSs) are critical for adenosine triphosphate-driven flagellar beating and axoneme stability, which is essential for flagellum motility. In this study, we found novel compound heterozygous mutations in leucine-rich repeat-containing protein 23 (\n                    <jats:italic toggle=\"yes\">LRRC23<\/jats:italic>\n                    ; c.1018C&gt;T: p.Q340X and c.881_897 Del: p.R295Gfs*32) in a proband from a nonconsanguineous family with AZS and male infertility. Diff-Quik staining and scanning electron microscopy revealed no abnormal sperm morphology. Western blotting and immunofluorescence staining showed that these mutations suppressed\n                    <jats:italic toggle=\"yes\">LRRC23<\/jats:italic>\n                    expression in sperm flagella. Additionally, transmission electron microscopy showed the absence of RS3 in sperm flagella, which disrupts stability of the radial spoke complex and impairs motility. Following\n                    <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                    fertilization and embryo transfer, the proband\u2019s spouse achieved successful pregnancy and delivered a healthy baby. In conclusion, our study indicates that two novel mutations in\n                    <jats:italic toggle=\"yes\">LRRC23<\/jats:italic>\n                    are associated with AZS, but successful fertility outcomes can be achieved by\n                    <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                    fertilization-embryo transfer techniques.\n                  <\/jats:p>","DOI":"10.4103\/aja202435","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T03:00:08Z","timestamp":1721962808000},"page":"484-489","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family"],"prefix":"10.4103","volume":"26","author":[{"given":"Song-Xi","family":"Tang","sequence":"first","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Si-Yu","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, The Affiliated Taizhou People\u2019s Hospital of Nanjing Medical University, Taizhou School of Clinical Medicine, Nanjing Medical University, Nanjing 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuang","family":"Xiao","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Reproductive Medicine and Offspring Health, Department of Histology and Embryology, School of Basic Medical Sciences, Nanjing Medical University, Nanjing 211166, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Lang","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Lin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Andrology and Sexual Medicine, First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, 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