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Oocyte maturation arrest

MedGen UID:
1838865
•Concept ID:
C5826764
•
Cell or Molecular Dysfunction
HPO: HP:0034914

Definition

Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOocyte maturation arrest

Conditions with this feature

Oocyte maturation defect 14
MedGen UID:
1840962
•Concept ID:
C5830326
•
Disease or Syndrome
Oocyte/zygote/embryo maturation arrest-14 (OZEMA14) is characterized by female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. The rare fertilized embryos that are transferred to the uterus fail to establish pregnancy after transfer (Zhao et al., 2020, Zhao et al., 2021, Huang et al., 2021, Xu et al., 2021). For a discussion of genetic heterogeneity of OZEMA, see 615774.
See: Condition Record
Oocyte maturation defect 14

Professional guidelines

PubMed

Genetic screening and analysis of TUBB8 variants in females seeking ART.
Lin T, Liu W, Han W, Tong K, Xiang Y, Liao H, Chen K, He Y, Liu D, Huang G
Reprod Biomed Online 2023 Feb;46(2):244-254. Epub 2022 Oct 17 doi: 10.1016/j.rbmo.2022.10.008. PMID: 36463079
Clinical application of an NGS-based method in the preimplantation genetic testing for Duchenne muscular dystrophy.
Ren Y, Lian Y, Yan Z, Zhai F, Yang M, Zhu X, Wang Y, Nie Y, Guan S, Kuo Y, Huang J, Shi X, Jia J, Qiao J, Yan L
J Assist Reprod Genet 2021 Aug;38(8):1979-1986. Epub 2021 Mar 15 doi: 10.1007/s10815-021-02126-z. PMID: 33719023Free PMC Article
Treatment options for impaired spermatogenesis: germ cell transplantation and stem-cell based therapy.
Neri QV, Takeuchi T, Rosenwaks Z, Palermo GD
Minerva Ginecol 2009 Aug;61(4):253-9. PMID: 19745793

Recent clinical studies

Etiology

Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.
Li Q, Zhao L, Zeng Y, Kuang Y, Guan Y, Chen B, Xu S, Tang B, Wu L, Mao X, Sun X, Shi J, Xu P, Diao F, Xue S, Bao S, Meng Q, Yuan P, Wang W, Ma N, Song D, Xu B, Dong J, Mu J, Zhang Z, Fan H, Gu H, Li Q, He L, Jin L, Wang L, Sang Q
Genome Biol 2023 Apr 6;24(1):68. doi: 10.1186/s13059-023-02894-0. PMID: 37024973Free PMC Article
PPM1K-regulated impaired catabolism of branched-chain amino acids orchestrates polycystic ovary syndrome.
Mu L, Ye Z, Hu J, Zhang Y, Chen K, Sun H, Li R, Mao W, Long X, Zhang C, Lai Y, Liu J, Zhao Y, Qiao J
EBioMedicine 2023 Mar;89:104492. Epub 2023 Feb 28 doi: 10.1016/j.ebiom.2023.104492. PMID: 36863088Free PMC Article
Relationship between body composition, insulin resistance, and hormonal profiles in women with polycystic ovary syndrome.
Zhang H, Wang W, Zhao J, Jiao P, Zeng L, Zhang H, Zhao Y, Shi L, Hu H, Luo L, Fukuzawa I, Li D, Li R, Qiao J
Front Endocrinol (Lausanne) 2022;13:1085656. Epub 2023 Jan 9 doi: 10.3389/fendo.2022.1085656. PMID: 36699018Free PMC Article
Association of Insulin Resistance and Elevated Androgen Levels with Polycystic Ovarian Syndrome (PCOS): A Review of Literature.
Xu Y, Qiao J
J Healthc Eng 2022;2022:9240569. Epub 2022 Mar 21 doi: 10.1155/2022/9240569. PMID: 35356614Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031

Diagnosis

Biallelic variants in MAD2L1BP (p31(comet)) cause female infertility characterized by oocyte maturation arrest.
Huang L, Li W, Dai X, Zhao S, Xu B, Wang F, Jin RT, Luo L, Wu L, Jiang X, Cheng Y, Zou J, Xu C, Tong X, Fan HY, Zhao H, Bao J
Elife 2023 Jun 19;12 doi: 10.7554/eLife.85649. PMID: 37334967Free PMC Article
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.
Li Q, Zhao L, Zeng Y, Kuang Y, Guan Y, Chen B, Xu S, Tang B, Wu L, Mao X, Sun X, Shi J, Xu P, Diao F, Xue S, Bao S, Meng Q, Yuan P, Wang W, Ma N, Song D, Xu B, Dong J, Mu J, Zhang Z, Fan H, Gu H, Li Q, He L, Jin L, Wang L, Sang Q
Genome Biol 2023 Apr 6;24(1):68. doi: 10.1186/s13059-023-02894-0. PMID: 37024973Free PMC Article
Relationship between body composition, insulin resistance, and hormonal profiles in women with polycystic ovary syndrome.
Zhang H, Wang W, Zhao J, Jiao P, Zeng L, Zhang H, Zhao Y, Shi L, Hu H, Luo L, Fukuzawa I, Li D, Li R, Qiao J
Front Endocrinol (Lausanne) 2022;13:1085656. Epub 2023 Jan 9 doi: 10.3389/fendo.2022.1085656. PMID: 36699018Free PMC Article
Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest.
Zhu L, Yang Q, Jin H, Zhou J, Wang M, Yang L, Li Z, Qian K, Jin L
Front Endocrinol (Lausanne) 2022;13:1016563. Epub 2022 Nov 10 doi: 10.3389/fendo.2022.1016563. PMID: 36440233Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031

Therapy

The microbial metabolite agmatine acts as an FXR agonist to promote polycystic ovary syndrome in female mice.
Yun C, Yan S, Liao B, Ding Y, Qi X, Zhao M, Wang K, Zhuo Y, Nie Q, Ye C, Xia P, Ma M, Li R, Jiang C, Qiao J, Pang Y
Nat Metab 2024 May;6(5):947-962. Epub 2024 May 20 doi: 10.1038/s42255-024-01041-8. PMID: 38769396
PPM1K-regulated impaired catabolism of branched-chain amino acids orchestrates polycystic ovary syndrome.
Mu L, Ye Z, Hu J, Zhang Y, Chen K, Sun H, Li R, Mao W, Long X, Zhang C, Lai Y, Liu J, Zhao Y, Qiao J
EBioMedicine 2023 Mar;89:104492. Epub 2023 Feb 28 doi: 10.1016/j.ebiom.2023.104492. PMID: 36863088Free PMC Article
Relationship between body composition, insulin resistance, and hormonal profiles in women with polycystic ovary syndrome.
Zhang H, Wang W, Zhao J, Jiao P, Zeng L, Zhang H, Zhao Y, Shi L, Hu H, Luo L, Fukuzawa I, Li D, Li R, Qiao J
Front Endocrinol (Lausanne) 2022;13:1085656. Epub 2023 Jan 9 doi: 10.3389/fendo.2022.1085656. PMID: 36699018Free PMC Article
Effect of advanced parental age on pregnancy outcome and offspring health.
Zhang C, Yan L, Qiao J
J Assist Reprod Genet 2022 Sep;39(9):1969-1986. Epub 2022 Aug 4 doi: 10.1007/s10815-022-02533-w. PMID: 35925538Free PMC Article
TrkB agonist antibody ameliorates fertility deficits in aged and cyclophosphamide-induced premature ovarian failure model mice.
Qin X, Zhao Y, Zhang T, Yin C, Qiao J, Guo W, Lu B
Nat Commun 2022 Feb 17;13(1):914. doi: 10.1038/s41467-022-28611-2. PMID: 35177657Free PMC Article

Prognosis

Diminished ovarian reserve causes adverse ART outcomes attributed to effects on oxygen metabolism function in cumulus cells.
Zhang C, Song S, Yang M, Yan L, Qiao J
BMC Genomics 2023 Oct 31;24(1):655. doi: 10.1186/s12864-023-09728-0. PMID: 37907878Free PMC Article
Evaluation of TUBB8 gene alterations in infertile women with oocyte maturation and cleavage arrest referred to Royan Institute.
Boroujeni PB, Rooney K, Alikhani M, Rahmati S, Feli G, Haratian K, Movaghar B, Meybodi AM
Reprod Biomed Online 2023 Oct;47(4):103226. Epub 2023 May 3 doi: 10.1016/j.rbmo.2023.04.017. PMID: 37597348
The prognostic miR-532-5p-correlated ceRNA-mediated lipid droplet accumulation drives nodal metastasis of cervical cancer.
Shang C, Li Y, He T, Liao Y, Du Q, Wang P, Qiao J, Guo H
J Adv Res 2022 Mar;37:169-184. Epub 2021 Sep 22 doi: 10.1016/j.jare.2021.09.009. PMID: 35499057Free PMC Article
A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertility.
Yang P, Chen T, Wu K, Hou Z, Zou Y, Li M, Zhang X, Xu J, Zhao H
Hum Reprod 2021 Jun 18;36(7):2011-2019. doi: 10.1093/humrep/deab094. PMID: 33893736
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031

Clinical prediction guides

Novel variants in TUBB8 gene cause multiple phenotypic abnormalities in human oocytes and early embryos.
Hu T, Li C, Qiao S, Liu W, Han W, Li W, Shi R, Xue X, Shi J, Huang G, Lin T
J Ovarian Res 2023 Nov 25;16(1):228. doi: 10.1186/s13048-023-01274-3. PMID: 38007525Free PMC Article
Diminished ovarian reserve causes adverse ART outcomes attributed to effects on oxygen metabolism function in cumulus cells.
Zhang C, Song S, Yang M, Yan L, Qiao J
BMC Genomics 2023 Oct 31;24(1):655. doi: 10.1186/s12864-023-09728-0. PMID: 37907878Free PMC Article
Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest.
Zhu L, Yang Q, Jin H, Zhou J, Wang M, Yang L, Li Z, Qian K, Jin L
Front Endocrinol (Lausanne) 2022;13:1016563. Epub 2022 Nov 10 doi: 10.3389/fendo.2022.1016563. PMID: 36440233Free PMC Article
The prognostic miR-532-5p-correlated ceRNA-mediated lipid droplet accumulation drives nodal metastasis of cervical cancer.
Shang C, Li Y, He T, Liao Y, Du Q, Wang P, Qiao J, Guo H
J Adv Res 2022 Mar;37:169-184. Epub 2021 Sep 22 doi: 10.1016/j.jare.2021.09.009. PMID: 35499057Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031

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