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1
Human embryonic genome activation initiates at the one-cell stage.人类胚胎基因组激活始于单细胞阶段。
Cell Stem Cell. 2022 Feb 3;29(2):209-216.e4. doi: 10.1016/j.stem.2021.11.012. Epub 2021 Dec 21.
2
Exome sequencing shines in empty follicle syndrome: zona pellucida gene mutations manifest genuine empty follicle syndrome.外显子组测序在空卵泡综合征中表现出色:透明带基因突变导致真正的空卵泡综合征。
Fertil Steril. 2021 May;115(5):1170-1171. doi: 10.1016/j.fertnstert.2021.03.007. Epub 2021 Mar 26.
3
Oocyte Spontaneous Activation: An Overlooked Cellular Event That Impairs Female Fertility in Mammals.卵母细胞自发激活:一种被忽视的损害哺乳动物雌性生育力的细胞事件。
Front Cell Dev Biol. 2021 Mar 8;9:648057. doi: 10.3389/fcell.2021.648057. eCollection 2021.
4
Increasing associations between defects in phospholipase C zeta and conditions of male infertility: not just ICSI failure?越来越多的证据表明,PLCζ 缺陷与男性不育症之间存在关联:这不仅仅是 ICSI 失败的原因?
J Assist Reprod Genet. 2020 Jun;37(6):1273-1293. doi: 10.1007/s10815-020-01748-z. Epub 2020 Apr 14.
5
A genomics approach to females with infertility and recurrent pregnancy loss.采用基因组学方法研究不孕和反复妊娠丢失的女性。
Hum Genet. 2020 May;139(5):605-613. doi: 10.1007/s00439-020-02143-5. Epub 2020 Mar 14.
6
Essential Role of Sperm-Specific PLC-Zeta in Egg Activation and Male Factor Infertility: An Update.精子特异性磷脂酶Cζ在卵子激活和男性因素不孕症中的重要作用:最新进展
Front Cell Dev Biol. 2020 Jan 29;8:28. doi: 10.3389/fcell.2020.00028. eCollection 2020.
7
Genetic analysis of embryo in a human case of spontaneous oocyte activation: a case report.人类自发卵母细胞激活病例中的胚胎遗传学分析:病例报告。
Gynecol Endocrinol. 2020 Apr;36(4):294-296. doi: 10.1080/09513590.2019.1687671. Epub 2019 Nov 10.
8
Cell-free DNA levels of twins and sibling pairs indicate individuality and possible use as a personalized biomarker.双胞胎和同胞对的无细胞 DNA 水平表明其具有个体性,并可能可用作个性化生物标志物。
PLoS One. 2019 Oct 10;14(10):e0223470. doi: 10.1371/journal.pone.0223470. eCollection 2019.
9
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.大规模一级临床外显子组测序在高度近亲繁殖人群中的经验教训。
Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23.
10
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.基于前1000个诊断面板和外显子组的沙特阿拉伯遗传疾病概况。
Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.

反复自发的卵母细胞激活可导致女性不孕。

Recurrent spontaneous oocyte activation causes female infertility.

机构信息

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia.

出版信息

J Assist Reprod Genet. 2022 Mar;39(3):675-680. doi: 10.1007/s10815-022-02435-x. Epub 2022 Feb 14.

DOI:10.1007/s10815-022-02435-x
PMID:35156150
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8995232/
Abstract

PURPOSE

Spontaneous oocyte activation (SOA) is a recently classified phenomenon characterized by the presence of a single pronucleus immediately following oocyte retrieval, without the apparent involvement of sperm. SOA currently remains poorly understood in humans, with no clear genetic or pathological factor(s). Herein, we report two separate cases of recurrent spontaneous oocyte activation, investigating potential avenues to identify causative etiology.

METHODS

Two patients with several cycles with SOA have undergone further genetic and embryologic investigation to reveal underlying causes for SOA and provide a treatment if possible.

RESULTS

One case was a patient with recurrent pregnancy loss and the other was diagnosed as unexplained infertility. In the first case, 61 out of 69 oocytes retrieved exhibited SOA in five cycles while in the second case 44 out of 49 oocytes exhibited SOA in five cycles. Oocytes were injected with sperm; embryo development and presence of paternal contribution were investigated. No pregnancy is ensued following embryo transfer in both patients. Time-lapse imaging of embryogenesis from the second case did not reveal even momentary second pronucleus appearance. We also performed clinical whole exome sequencing for both patients but did not identify any disease-causing variant.

CONCLUSION

Patients with SOA suffer from infertility. Our results indicate that more investigation is required to understand the etiology of SOA in humans concentrating on the molecular mechanisms that underpin regulation of oocyte activation and calcium dynamics need to be investigated to fully understand, and perhaps in the future rectify, recurrent SOA.

摘要

目的

自发性卵母细胞激活(SOA)是一种最近分类的现象,其特征是在卵母细胞回收后立即存在单个原核,而没有明显涉及精子。目前,SOA 在人类中仍知之甚少,没有明确的遗传或病理因素。在此,我们报告两例复发性自发性卵母细胞激活病例,以探讨潜在的病因学途径。

方法

两名反复出现 SOA 的患者进行了进一步的遗传和胚胎学调查,以揭示 SOA 的潜在病因,并尽可能提供治疗方法。

结果

一例为复发性妊娠丢失患者,另一例诊断为不明原因不孕。在第一例中,5 个周期中有 69 个卵母细胞中 61 个表现出 SOA,而在第二例中,5 个周期中有 49 个卵母细胞中 44 个表现出 SOA。卵母细胞被注射精子;研究胚胎发育和父系贡献情况。两名患者胚胎移植后均未怀孕。来自第二例的胚胎发生的时差成像甚至没有显示出瞬间的第二原核出现。我们还对两名患者进行了临床全外显子组测序,但未发现任何致病变异。

结论

患有 SOA 的患者患有不孕症。我们的结果表明,需要进一步研究以了解人类 SOA 的病因,集中研究卵母细胞激活和钙动力学的调控的分子机制,以全面了解并在未来可能纠正复发性 SOA。