{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T21:58:18Z","timestamp":1785362298151,"version":"3.55.0"},"reference-count":23,"publisher":"Ovid Technologies (Wolters Kluwer Health)","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"<jats:p>\n                    Acephalic spermatozoa syndrome (ASS) is a rare cause of male infertility characterized by sperm tails lacking heads. Although zinc finger MYND-type containing 15 (\n                    <jats:italic toggle=\"yes\">ZMYND15<\/jats:italic>\n                    ) mutations are linked to male infertility, their role in ASS is unknown. In this study, whole-exome sequencing identified novel homozygous truncating mutations, c.292C&gt;T (p.Arg98Ter) and c.337G&gt;T (p.Glu113Ter), in\n                    <jats:italic toggle=\"yes\">ZMYND15<\/jats:italic>\n                    from two infertile patients. These mutations caused protein truncation and impaired function, leading to extremely low sperm counts, poor motility, and numerous acephalic spermatozoa. Electron microscopy and sperm immunofluorescence revealed abnormal sperm neck structures, missing mitochondrial sheaths, failure of acrosome formation, and a lack of central microtubules. Experiments showed reduced mutant protein expression and high rates of degradation. Coimmunoprecipitation experiments indicated a direct interaction between ZMYND15 and Sad1 and UNC84 domain containing 5 (SUN5), crucial for forming the sperm head\u2013tail connection. One patient achieved a live birth via intracytoplasmic sperm injection (ICSI), whereas the other had an early miscarriage. This study links\n                    <jats:italic toggle=\"yes\">ZMYND15<\/jats:italic>\n                    mutations directly to ASS, highlighting its role in spermatogenesis and offering insights for clinical diagnosis and treatment.\n                  <\/jats:p>","DOI":"10.4103\/aja2025109","type":"journal-article","created":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T07:00:08Z","timestamp":1785308408000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Novel mutations in ZMYND15 expand the phenotypic spectrum to acephalic spermatozoa: abnormal sperm head\u2013tail connection mediated by SUN5"],"prefix":"10.4103","author":[{"given":"Qian-Jun","family":"Zhang","sequence":"first","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Central South University, Changsha 410013, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"},{"name":"Clinical Laboratory, Hunan Guangxiu Hospital, Hunan Normal University, Changsha 410013, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Lin","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Hunan Guangxiu Hospital, Hunan Normal University, Changsha 410013, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui-Long","family":"Hao","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Hunan Guangxiu Hospital, Hunan Normal University, Changsha 410013, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun-Fei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, The Third Xiangya Hospital, Central South University, Changsha 410013, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Ping","family":"Lin","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Hunan Guangxiu Hospital, Hunan Normal University, Changsha 410013, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Si-Cong","family":"Zeng","sequence":"additional","affiliation":[{"name":"Clinical Laboratory, Hunan Guangxiu Hospital, Hunan Normal University, Changsha 410013, China"},{"name":"Scientific Research Department, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Central South University, Changsha 410013, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Na","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Central South University, Changsha 410013, China"},{"name":"Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"},{"name":"Department of Urology (Andrology), Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha 410008, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2026,7,28]]},"reference":[{"key":"R1-20260729","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1007\/s11934-016-0627-x","article-title":"Genetics of male 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