{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:27:36Z","timestamp":1790616456000,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,11]],"date-time":"2018-02-11T00:00:00Z","timestamp":1518307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Science and Technology Project of Fujian Province","award":["2017D011"],"award-info":[{"award-number":["2017D011"]}]},{"name":"Science and Technology Project of Fujian Province","award":["2015D018"],"award-info":[{"award-number":["2015D018"]}]},{"name":"Youth Scienctific Research Project of Fujian Provincial Health and Family Planning Commission","award":["2015-2-52"],"award-info":[{"award-number":["2015-2-52"]}]},{"name":"Youth Scienctific Research Project of Fujian Provincial Health and Family Planning Commission","award":["2016-2-72"],"award-info":[{"award-number":["2016-2-72"]}]},{"name":"Open Project of Key Laboratory of Male Reproductive and Genetics, National Health and Family Planning Commission","award":["KF201704"],"award-info":[{"award-number":["KF201704"]}]},{"name":"Youth Scientific Research Project of Fujian Provincial Health and Family Planning Commission","award":["2016-2-72"],"award-info":[{"award-number":["2016-2-72"]}]},{"name":"Youth Scientific Research Project of Fujian Provincial Health and Family Planning Commission","award":["2015-2-52"],"award-info":[{"award-number":["2015-2-52"]}]},{"name":"Young\/Middle-aged Talent Cultivation Project","award":["2015-ZQN-JC-44"],"award-info":[{"award-number":["2015-ZQN-JC-44"]}]},{"name":"Major\/Important Disease Research Project","award":["3502Z20159022"],"award-info":[{"award-number":["3502Z20159022"]}]},{"name":"Xiamen Science and Technology Planning Project","award":["3502Z20154033"],"award-info":[{"award-number":["3502Z20154033"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Acephalic spermatozoa is a rare teratozoospermia associated with male infertility. However, the pathogenesis of this disorder remains unclear. Here, we report a 27 years old infertile male from a consanguineous family, who presented with 99% headless sperm in his ejaculate. Electron microscopic and immunofluorescence analysis suggested breakage at the midpiece of the patient's sperm cells. Subsequent whole\u2010exome sequencing analysis identified a homozygous deletion within <jats:italic>TSGA10<\/jats:italic> (c.211delG; p.A71Hfs*12), which resulted in the production of truncated TSGA10 protein. TSGA10 is a testis\u2010specific protein that localized to the midpiece in the spermatozoa of a normal control; however, immunostaining failed to detect TSGA10 protein in the patient's sperm. Western blot analysis also showed complete absence of TSGA10 protein in the patient. One cycle of in vitro fertilization\u2010assisted reproduction was conducted, but pregnancy was not achieved after embryo transfer, possibly due to poor embryo quality. Therefore, we speculate that the presence of rare sequence variants within <jats:italic>TSGA10<\/jats:italic> may be associated with acephalic spermatozoa in humans.<\/jats:p>","DOI":"10.1111\/cge.13140","type":"journal-article","created":{"date-parts":[[2017,9,14]],"date-time":"2017-09-14T07:38:43Z","timestamp":1505374723000},"page":"776-783","source":"Crossref","is-referenced-by-count":101,"title":["<i>TSGA10<\/i> is a novel candidate gene associated with acephalic spermatozoa"],"prefix":"10.1111","volume":"93","author":[{"given":"Y.\u2010W.","family":"Sha","sequence":"first","affiliation":[{"name":"Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital  Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.\u2010K.","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Nephrology First Affiliated Hospital of Jinzhou Medical University  Jinzhou 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