Fengsong Wang1, Jingjing Zhang2,3,4, Shuai Kong1, Chanjuan Li2,3,4, Zhiguo Zhang2,3,4, Xiaojin He2,3,4, Huan Wu2,3,4, Dongdong Tang2,3,4, Xiaomin Zha2,3,4, Qing Tan2,3,4, Zongliu Duan2,3,4, Yunxia Cao5,6,7, Fuxi Zhu8,9,10. 1. School of Life Science, Anhui Medical University, Hefei, 230022, China. 2. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. 3. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Hefei, 230022, China. 4. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China. 5. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. Caoyunxia6@126.com. 6. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Hefei, 230022, China. Caoyunxia6@126.com. 7. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China. Caoyunxia6@126.com. 8. Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. fxzhu@ahmu.edu.cn. 9. NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, Hefei, 230022, China. fxzhu@ahmu.edu.cn. 10. Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China. fxzhu@ahmu.edu.cn.
Abstract
PURPOSE: To identify the pathogenic PLCZ1 mutation involved in male infertility and fertilization failure. METHODS: All coding regions of PLCZ1 were sequenced by Sanger sequencing. The expression and localization of PLCZ1 in sperm was determined by Western blotting and immunofluorescence. To promote the fertilization rate, the infertile man with PLCZ1 mutation was treated with intracytoplasmic sperm injection (ICSI) accompanied by assisted oocyte activation (AOA) in the following cycle. RESULT: We identified a novel homozygous PLCZ1 nonsense mutation, c.588C>A (p.Cys196Ter) in an infertile man from a consanguineous family. No PLCZ1 protein was detected by Western blotting and immunofluorescence in ejaculated sperm from the patient. The treatment of ICSI + AOA avoided fertilization failure but did not result in pregnancy in the following cycle. CONCLUSION: Our study confirmed the essential role of PLCZ1 in fertilization and male fertility, which indicated the potential prognostic value of testing for PLCZ1 mutations in primary infertile men with sperm-derived fertilization failure.
PURPOSE: To identify the pathogenic PLCZ1 mutation involved in male infertility and fertilization failure. METHODS: All coding regions of PLCZ1 were sequenced by Sanger sequencing. The expression and localization of PLCZ1 in sperm was determined by Western blotting and immunofluorescence. To promote the fertilization rate, the infertileman with PLCZ1 mutation was treated with intracytoplasmic sperm injection (ICSI) accompanied by assisted oocyte activation (AOA) in the following cycle. RESULT: We identified a novel homozygous PLCZ1 nonsense mutation, c.588C>A (p.Cys196Ter) in an infertileman from a consanguineous family. No PLCZ1 protein was detected by Western blotting and immunofluorescence in ejaculated sperm from the patient. The treatment of ICSI + AOA avoided fertilization failure but did not result in pregnancy in the following cycle. CONCLUSION: Our study confirmed the essential role of PLCZ1 in fertilization and male fertility, which indicated the potential prognostic value of testing for PLCZ1 mutations in primary infertilemen with sperm-derived fertilization failure.
Entities:
Keywords:
Fertilization failure; Male infertility; Oocyte activation; PLCZ1; Sperm
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