{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T22:02:53Z","timestamp":1792792973919,"version":"4.5.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2023,5,15]],"date-time":"2023-05-15T00:00:00Z","timestamp":1684108800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003392","name":"Natural Science Foundation of Fujian Province","doi-asserted-by":"publisher","award":["2021J011267"],"award-info":[{"award-number":["2021J011267"]}],"id":[{"id":"10.13039\/501100003392","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Clinical Research Programs Foundation of Dongfang Hospital","award":["2021MS04"],"award-info":[{"award-number":["2021MS04"]}]},{"name":"Special Foundation of Military Family Planning Research","award":["21JSZ12"],"award-info":[{"award-number":["21JSZ12"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Fertilization failure is a significant manifestation of unexplained male infertility. Previous work has suggested a genetic origin. In this study, we report on a man with unexplained infertility from a large consanguineous marriage family. Whole-exome sequencing and Sanger sequencing identified a homozygous frameshift variation of the IQ motif containing N (IQCN; GenBank: NM_001145304.1; c.1061_1062delAT; p.Y354Sfs*13) in the proband and one of his two brothers, who also remained infertile. Analyses of spermatozoa by quantitative RT-PCR indicated that the level of IQCN mRNA was significantly reduced compared to fertile men and the protein could not be detected by western blotting and immunofluorescent staining in the proband. Immunofluorescent staining of spermatozoa from fertile men showed that IQCN was located in the acrosomal region and translocated to the equatorial segment after the acrosome reaction. The proband spermatozoa had abnormal morphology and function. Finally, the proband couple underwent IVF with donor sperm and a healthy baby was born. Furthermore, we developed an Iqcn-KO mouse model using the CRISPR\/Cas9 technique. Sperm quality, except for sperm motility, and the fertility of male Iqcn\u2212\/\u2212 mice were consistent with those of the proband. In conclusion, the findings in humans and mice demonstrate that the homozygous frameshift variant of IQCN causes male infertility owing to autosomal-recessive fertilization failure.<\/jats:p>","DOI":"10.1093\/molehr\/gaad018","type":"journal-article","created":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T13:48:19Z","timestamp":1688132899000},"source":"Crossref","is-referenced-by-count":16,"title":["Loss-of-function mutations in <i>IQCN<\/i> cause male infertility in humans and mice owing to total fertilization failure"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4172-6708","authenticated-orcid":false,"given":"Yulin","family":"Wang","sequence":"first","affiliation":[{"name":"Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical College, Fujian Medical University (900th Hospital of the Joint Logistics Force) , Fuzhou, 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University (900th Hospital of the Joint Logistics Force) , Fuzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunli","family":"Lin","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Dongfang Hospital, Xiamen University , Fuzhou"},{"name":"Center for Reproductive Medicine, Fuzong Clinical College, Fujian Medical University (900th Hospital of the Joint Logistics Force) , Fuzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingyi","family":"Kang","sequence":"additional","affiliation":[{"name":"Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical College, Fujian Medical University (900th Hospital of the Joint Logistics Force) , Fuzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianqing","family":"Lian","sequence":"additional","affiliation":[{"name":"Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical College, Fujian Medical University (900th Hospital of the Joint Logistics Force) , Fuzhou, China"},{"name":"Laboratory of Basic Medicine, Dongfang Hospital, Xiamen University , Fuzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Lu","sequence":"additional","affiliation":[{"name":"Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical College, Fujian Medical University (900th Hospital of the Joint Logistics Force) , Fuzhou, China"},{"name":"Laboratory of Basic Medicine, Dongfang Hospital, Xiamen University , Fuzhou, China"},{"name":"Laboratory of Basic Medicine, Fuzong Teaching Hospital, Fujian University of Traditional Chinese Medicine , Fuzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Dongfang Hospital, Xiamen University , Fuzhou"},{"name":"Center for Reproductive Medicine, Fuzong Clinical College, Fujian Medical University (900th 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