{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:04:29Z","timestamp":1790395469475,"version":"4.1.0"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:p>\n                    Failure of oocyte activation, including polyspermy and defects in pronuclear (PN) formation, triggers early embryonic developmental arrest. Many studies have shown that phospholipase C zeta 1 (\n                    <jats:italic toggle=\"yes\">PLCZ1<\/jats:italic>\n                    ) mutations cause failure of PN formation following intracytoplasmic sperm injection (ICSI); however, whether\n                    <jats:italic toggle=\"yes\">PLCZ1<\/jats:italic>\n                    mutation is associated with polyspermy during in vitro fertilization (IVF) remains unknown. Whole-exome sequencing (WES) was performed to identify candidate mutations in couples with primary infertility. Sanger sequencing was used to validate the mutations. Multiple\n                    <jats:italic toggle=\"yes\">PLCZ1<\/jats:italic>\n                    -mutated sperm were injected into human and mouse oocytes to explore whether PN formation was induced. Assisted oocyte activation (AOA) after ICSI was performed to overcome the failure of oocyte activation. We identified three\n                    <jats:italic toggle=\"yes\">PLCZ1<\/jats:italic>\n                    mutations in three patients who experienced polyspermy during IVF cycles, including a novel missense mutation c.1154C&gt;T, p.R385Q. PN formation failure was observed during the ICSI cycle. However, injection of multiple\n                    <jats:italic toggle=\"yes\">PLCZ1<\/jats:italic>\n                    <jats:italic toggle=\"yes\">-<\/jats:italic>\n                    mutated sperm induced PN formation, suggesting that the Ca\n                    <jats:sup>2+<\/jats:sup>\n                    oscillations induced by the sperm exceeded the necessary threshold for PN formation. AOA after ICSI enabled normal fertilization, and all patients achieved successful pregnancies. These findings expand the mutational spectrum of\n                    <jats:italic toggle=\"yes\">PLCZ1<\/jats:italic>\n                    and suggest an important role for\n                    <jats:italic toggle=\"yes\">PLCZ1<\/jats:italic>\n                    in terms of blocking polyspermy. Furthermore, this study may benefit genetic diagnoses in cases of abnormal fertilization and provide potential appropriate therapeutic measures for these patients with sperm-derived polyspermy.\n                  <\/jats:p>","DOI":"10.4103\/aja202376","type":"journal-article","created":{"date-parts":[[2024,3,6]],"date-time":"2024-03-06T01:00:15Z","timestamp":1709686815000},"page":"389-395","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":9,"title":["Novel PLCZ1 mutation caused polyspermy during in vitro fertilization"],"prefix":"10.4103","volume":"26","author":[{"given":"Ke-Ya","family":"Tong","sequence":"first","affiliation":[{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400012, China"},{"name":"Chongqing Clinical Research Center for Reproductive Medicine, Center for Reproductive Medicine, Chongqing Health Center for Women and Children, Chongqing 400012, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei-Wei","family":"Liu","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400012, China"},{"name":"Chongqing Clinical Research Center for Reproductive Medicine, Center for Reproductive Medicine, Chongqing Health Center for Women and Children, Chongqing 400012, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Wei","family":"Sun","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400012, China"},{"name":"Chongqing Clinical Research Center for Reproductive Medicine, Center for Reproductive Medicine, Chongqing Health Center for Women and Children, Chongqing 400012, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong-Yun","family":"Liu","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400012, China"},{"name":"Chongqing Clinical Research Center for Reproductive Medicine, Center for Reproductive Medicine, Chongqing Health Center for Women and Children, Chongqing 400012, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye-Zhou","family":"Xiang","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400012, China"},{"name":"Chongqing Clinical Research Center for Reproductive Medicine, Center for Reproductive Medicine, Chongqing Health Center for Women and Children, Chongqing 400012, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong","family":"Li","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400012, China"},{"name":"Chongqing Clinical Research Center for Reproductive Medicine, Center for Reproductive Medicine, Chongqing Health Center for Women and Children, Chongqing 400012, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu-Wei","family":"Chai","sequence":"additional","affiliation":[{"name":"Chongqing Key Laboratory of Human Embryo Engineering, Center for Reproductive Medicine, Women and Children\u2019s Hospital of Chongqing Medical University, Chongqing 400012, China"},{"name":"Chongqing Clinical Research Center for Reproductive Medicine, Center for Reproductive Medicine, Chongqing Health 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