Novel PLCZ1 mutation caused polyspermy during in vitro fertilization
作者机构：Chongqing Key Laboratory of Human Embryo EngineeringCenter for Reproductive MedicineWomen and Children’s Hospital of Chongqing Medical UniversityChongqing 400012China Chongqing Clinical Research Center for Reproductive MedicineCenter for Reproductive MedicineChongqing Health Center for Women and ChildrenChongqing 400012China.
出 版 物：《Asian Journal of Andrology》 (亚洲男性学杂志（英文版）)
年 卷 期：2024年第26卷第4期
页 面：389-395页
核心收录：
学科分类：1002[医学-临床医学] 100211[医学-妇产科学] 10[医学]
基 金：the General Project of Chongqing Natural Science foundation of China(cstc2021jcyj-msxmX0877) the Chongqing Medical Scientific Research Project(Joint Project of Chongqing Health Commission and Science and Technology Bureau,2023MSXM054) the General Project of Chongqing Health Center for Women and Children(2020YJMS01 and 2021YJMS05)
主 题：AOA PLCZ1 polyspermy pronuclear formation
摘 要：Failure of oocyte activation,including polyspermy and defects in pronuclear(PN)formation,triggers early embryonic developmental *** studies have shown that phospholipase C zeta 1(PLCZ1)mutations cause failure of PN formation following intracytoplasmic sperm injection(ICSI);however,whether PLCZ1 mutation is associated with polyspermy during in vitro fertilization(IVF)remains ***-exome sequencing(WES)was performed to identify candidate mutations in couples with primary *** sequencing was used to validate the *** PLCZ1-mutated sperm were injected into human and mouse oocytes to explore whether PN formation was *** oocyte activation(AOA)after ICSI was performed to overcome the failure of oocyte *** identified three PLCZ1 mutations in three patients who experienced polyspermy during IVF cycles,including a novel missense mutation c.1154CT,*** formation failure was observed during the ICSI ***,injection of multiple PLCZ1-mutated sperm induced PN formation,suggesting that the Ca2+oscillations induced by the sperm exceeded the necessary threshold for PN *** after ICSI enabled normal fertilization,and all patients achieved successful *** findings expand the mutational spectrum of PLCZ1 and suggest an important role for PLCZ1 in terms of blocking ***,this study may benefit genetic diagnoses in cases of abnormal fertilization and provide potential appropriate therapeutic measures for these patients with sperm-derived polyspermy.
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