PLCZ1 基因纯合无义突变导致卵母细胞激活缺陷性男性不育。
A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency.
机构信息
School of Life Science, Anhui Medical University, Hefei, 230022, China.
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.
出版信息
J Assist Reprod Genet. 2020 Apr;37(4):821-828. doi: 10.1007/s10815-020-01719-4. Epub 2020 Mar 7.
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.
目的
鉴定导致男性不育和受精失败的致病性 PLCZ1 突变。
方法
通过 Sanger 测序对 PLCZ1 的所有编码区进行测序。通过 Western blot 和免疫荧光法确定 PLCZ1 在精子中的表达和定位。为了提高受精率，对携带 PLCZ1 突变的不育男性，在下一个周期中采用卵胞浆内单精子注射（ICSI）联合辅助卵母细胞激活（AOA）进行治疗。
结果
我们在一个来自近亲家庭的不育男性中鉴定出一种新的纯合 PLCZ1 无义突变，c.588C>A（p.Cys196Ter）。患者射出的精子中通过 Western blot 和免疫荧光法均未检测到 PLCZ1 蛋白。ICSI+AOA 治疗避免了受精失败，但在下一个周期中并未导致妊娠。
结论
我们的研究证实了 PLCZ1 在受精和男性生育力中的重要作用，这表明在原发性精子受精失败的不育男性中检测 PLCZ1 突变具有潜在的预后价值。
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