{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:29:19Z","timestamp":1790616559154,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T00:00:00Z","timestamp":1589500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81871161"],"award-info":[{"award-number":["81871161"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Acephalic spermatozoa is an extremely rare type of teratozoospermia that is associated with male infertility. Several genes have been reported to be relevant to acephalic spermatozoa. Thus, more genetic pathogenesis needs to be explored.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing was performed in a patient with acephalic spermatozoa. Then Sanger sequencing was used for validation in the patient and his family. The patient's spermatozoa sample was observed by papanicolaou staining and transmission electron microscopy. Western blot and immunofluorescence were performed to detect the level and localization of related proteins.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel homozygous frameshift insertion mutation c.545dupT;p.Ala183Serfs*10 in exon 8 of <jats:italic>TSGA10<\/jats:italic> (NM_001349012.1) was identified. Our results showed misarranged mitochondrial sheath and abnormal flagellum in the patient's spermatozoa. TSGA10 failed to be detected in the patient's spermatozoa. However, the expression of SUN5 and PMFBP1 remained unaffected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These results suggest that the novel homozygous frameshift insertion mutation of TSGA10 is a cause of acephalic spermatozoa.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1284","type":"journal-article","created":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T08:02:45Z","timestamp":1589529765000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Loss\u2010of\u2010function mutation in <i>TSGA10<\/i> causes acephalic spermatozoa phenotype in human"],"prefix":"10.1002","volume":"8","author":[{"given":"Yuanyuan","family":"Ye","sequence":"first","affiliation":[{"name":"Reproductive Medicine Center The First Affiliated Hospital of Xiamen University Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoli","family":"Wei","sequence":"additional","affiliation":[{"name":"School of Pharmaceutical Sciences Xiamen University Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanwei","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Li","sequence":"additional","affiliation":[{"name":"Intensive Care Unit Fujian Medical University Xiamen Humanity Hospital Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong","family":"Yan","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The First Affiliated Hospital of Xiamen University Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Cheng","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The First Affiliated Hospital of Xiamen University Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duanrui","family":"Qiao","sequence":"additional","affiliation":[{"name":"Department of Gynecology Second Hospital of Jilin University Changchun China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weidong","family":"Zhou","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The First Affiliated Hospital of Xiamen University Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rongfeng","family":"Wu","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The First Affiliated Hospital of Xiamen University Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiaobin","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine the 174th Hospital of People's Liberation Army Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7068-3885","authenticated-orcid":false,"given":"Youzhu","family":"Li","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The First Affiliated Hospital of Xiamen University Xiamen China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,15]]},"reference":[{"issue":"3","key":"e_1_2_10_2_1","first-page":"161","article-title":"TSGA10 is specifically expressed in astrocyte and over\u2010expressed in brain tumors","volume":"1","author":"Behnam B.","year":"2009","journal-title":"Avicenna Journal of Medical Biotechnology"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.03.240"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)50011-9"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/14.7.1811"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.5812\/ircmj.3611"},{"issue":"16","key":"e_1_2_10_7_1","first-page":"3167","article-title":"Homozygous deletion of SUN5 in three men with decapitated spermatozoa","volume":"26","author":"Elkhatib R. 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