{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T15:14:50Z","timestamp":1790522090822,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T00:00:00Z","timestamp":1669766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Acephalic spermatozoa syndrome (ASS) is a rare and severe type of teratozoospermia characterized by the predominance of headless spermatozoa in the ejaculate. However, knowledge about the causative genes associated with ASS in humans is limited. Loss\u2010of\u2010function of\n                    <jats:italic>SPATA20<\/jats:italic>\n                    has been suggested to result in the separation of the sperm head and flagellum in mice, whereas there have been no cases reporting\n                    <jats:italic>SPATA20<\/jats:italic>\n                    variants leading to human male infertility. In this study, a nonsense mutation in\n                    <jats:italic>SPATA20<\/jats:italic>\n                    (c.619C\u2009&gt;\u2009T, p.Arg207*) was first identified in an ASS patient. Moreover, this variant contributed to the degradation of SPATA20 and was associated with decreased expression of SPATA6, which plays a vital role in the assembly of the sperm head\u2010tail conjunction in humans. In addition, the infertility caused by loss\u2010of\u2010function mutation of\n                    <jats:italic>SPATA20<\/jats:italic>\n                    might not be rescued by intracytoplasmic sperm injection (ICSI). Collectively, our findings suggested that\n                    <jats:italic>SPATA20<\/jats:italic>\n                    might be required for sperm head\u2010tail conjunction formation in humans, the nonfunction of which may lead to male infertility related to ASS. The discovery of the loss\u2010of\u2010function mutation in\n                    <jats:italic>SPATA20<\/jats:italic>\n                    enriches the gene variant spectrum of human ASS, further contributing to improved diagnosis, genetic counseling and prognosis for male infertility.\n                  <\/jats:p>","DOI":"10.1111\/cge.14268","type":"journal-article","created":{"date-parts":[[2022,11,22]],"date-time":"2022-11-22T01:35:20Z","timestamp":1669080920000},"page":"310-319","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Identification of nonfunctional\n                    <scp>SPATA20<\/scp>\n                    causing acephalic spermatozoa syndrome in humans"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8930-6801","authenticated-orcid":false,"given":"Xiang","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siyu","family":"Dai","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Department of Obstetrics and Gynecology West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gan","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yihong","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu China"},{"name":"Center for Reproductive Medicine, Department of Obstetrics and Gynecology West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6346-1002","authenticated-orcid":false,"given":"Ying","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu 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