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Oocyte maturation defect 12(OOMD12; OZEMA12)

MedGen UID:
1794273
•Concept ID:
C5562063
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 12
 
Gene (location): FBXO43 (8q22.2)
 
Monarch Initiative: MONDO:0030523
OMIM®: 619697

Definition

Oocyte/zygote/embryo maturation arrest-12 (OZEMA12) is characterized by female infertility due to early embryonic arrest (Wang et al., 2021). Mutation in the FBXO43 gene can also cause male infertility due to spermatogenic failure (see SPGF64, 619696). For a general phenotypic description and discussion of genetic heterogeneity of OZEMA, see 615774. [from OMIM]

Clinical features

From HPO
Female infertility
MedGen UID:
5795
•Concept ID:
C0021361
•
Pathologic Function
Infertility in a woman.
See: Feature record | Search on this feature
Abnormal preimplantation embryonic development
MedGen UID:
1786809
•Concept ID:
C5539523
•
Congenital Abnormality
An anomaly in the development of the embryo in a stage prior to implantation.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
Fertility in men with cystic fibrosis assessment, investigations and management.
Smith HC
Paediatr Respir Rev 2010 Jun;11(2):80-3. Epub 2010 Mar 12 doi: 10.1016/j.prrv.2010.01.003. PMID: 20416542
Treatment of severe male infertility by micromanipulation-assisted fertilization: an update.
Tesarik J, Mendoza C
Front Biosci 2007 Jan 1;12:105-14. doi: 10.2741/2051. PMID: 17127286

Recent clinical studies

Etiology

Mendelian randomization and multi-omics approach analyses reveal impaired glucose metabolism and oxidative phosphorylation in visceral adipose tissue of women with polycystic ovary syndrome.
Zhang Y, Jiang X, Song X, Zhang J, Mao W, Chen W, Yuan S, Chen Y, Mu L, Zhao Y
Hum Reprod 2024 Dec 1;39(12):2785-2797. doi: 10.1093/humrep/deae244. PMID: 39448886
Maturation outcomes are improved following Cryoleaf vitrification of immature human oocytes when compared to choline-based slow-freezing.
Combelles CM, Ceyhan ST, Wang H, Racowsky C
J Assist Reprod Genet 2011 Dec;28(12):1183-92. Epub 2011 Nov 17 doi: 10.1007/s10815-011-9674-x. PMID: 22089264Free PMC Article
Treatment of severe male infertility by micromanipulation-assisted fertilization: an update.
Tesarik J, Mendoza C
Front Biosci 2007 Jan 1;12:105-14. doi: 10.2741/2051. PMID: 17127286
Morphological-cytochemical and molecular genetic analyses of mitochondria in isolated human oocytes in the reproductive age.
Müller-Höcker J, Schäfer S, Weis S, Münscher C, Strowitzki T
Mol Hum Reprod 1996 Dec;2(12):951-8. doi: 10.1093/molehr/2.12.951. PMID: 9237239
Frequency and distribution of aneuploidy in human female gametes.
Pellestor F
Hum Genet 1991 Jan;86(3):283-8. doi: 10.1007/BF00202410. PMID: 1997383

Diagnosis

Physiological and pathological mechanisms of oocyte meiosis.
Zhou Z, Sang Q, Wang L
Yi Chuan 2023 Dec 20;45(12):1087-1099. doi: 10.16288/j.yczz.23-170. PMID: 38764273
NLRP14 deficiency causes female infertility with oocyte maturation defects and early embryonic arrest by impairing cytoplasmic UHRF1 abundance.
Zhang W, Zhang R, Wu L, Zhu C, Zhang C, Xu C, Zhao S, Liu X, Guo T, Lu Y, Gao Z, Yu X, Li L, Chen ZJ, Qin Y, Jiao X
Cell Rep 2023 Dec 26;42(12):113531. Epub 2023 Dec 6 doi: 10.1016/j.celrep.2023.113531. PMID: 38060382
Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
Non-syndromic monogenic female infertility.
Guerri G, Maniscalchi T, Barati S, Gerli S, Di Renzo GC, Della Morte C, Marceddu G, Casadei A, Laganà AS, Sturla D, Ghezzi F, Garzon S, Unfer V, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):68-74. doi: 10.23750/abm.v90i10-S.8763. PMID: 31577258Free PMC Article
Treatment of severe male infertility by micromanipulation-assisted fertilization: an update.
Tesarik J, Mendoza C
Front Biosci 2007 Jan 1;12:105-14. doi: 10.2741/2051. PMID: 17127286

Therapy

Mendelian randomization and multi-omics approach analyses reveal impaired glucose metabolism and oxidative phosphorylation in visceral adipose tissue of women with polycystic ovary syndrome.
Zhang Y, Jiang X, Song X, Zhang J, Mao W, Chen W, Yuan S, Chen Y, Mu L, Zhao Y
Hum Reprod 2024 Dec 1;39(12):2785-2797. doi: 10.1093/humrep/deae244. PMID: 39448886
Advances in the genetic etiology of female infertility.
Gu R, Wu T, Fu J, Sun YJ, Sun XX
J Assist Reprod Genet 2024 Dec;41(12):3261-3286. Epub 2024 Sep 25 doi: 10.1007/s10815-024-03248-w. PMID: 39320554Free PMC Article
Impact of Bisphenol A and its alternatives on oocyte health: a scoping review.
Peters AE, Ford EA, Roman SD, Bromfield EG, Nixon B, Pringle KG, Sutherland JM
Hum Reprod Update 2024 Dec 1;30(6):653-691. doi: 10.1093/humupd/dmae025. PMID: 39277428Free PMC Article
Mitochondria-targeted therapeutics, MitoQ and BGP-15, reverse aging-associated meiotic spindle defects in mouse and human oocytes.
Al-Zubaidi U, Adhikari D, Cinar O, Zhang QH, Yuen WS, Murphy MP, Rombauts L, Robker RL, Carroll J
Hum Reprod 2021 Feb 18;36(3):771-784. doi: 10.1093/humrep/deaa300. PMID: 33367783Free PMC Article
Improvement of gamete quality by stimulating and feeding the endogenous antioxidant system: mechanisms, clinical results, insights on gene-environment interactions and the role of diet.
Dattilo M, D'Amato G, Caroppo E, Ménézo Y
J Assist Reprod Genet 2016 Dec;33(12):1633-1648. Epub 2016 Jul 16 doi: 10.1007/s10815-016-0767-4. PMID: 27423667Free PMC Article

Prognosis

Mendelian randomization and multi-omics approach analyses reveal impaired glucose metabolism and oxidative phosphorylation in visceral adipose tissue of women with polycystic ovary syndrome.
Zhang Y, Jiang X, Song X, Zhang J, Mao W, Chen W, Yuan S, Chen Y, Mu L, Zhao Y
Hum Reprod 2024 Dec 1;39(12):2785-2797. doi: 10.1093/humrep/deae244. PMID: 39448886
Nomogram to predict the probability of clinical pregnancy in women with poor ovarian response undergoing in vitro fertilization/ intracytoplasmic sperm injection cycles.
Zhu S, Jiang W, Sun Y, Chen L, Li R, Chen X, Zheng B
Arch Gynecol Obstet 2024 Sep;310(3):1697-1707. Epub 2024 Jun 24 doi: 10.1007/s00404-024-07598-9. PMID: 38913207
Rare homozygous mutation in TUBB8 associated with oocyte maturation defect-2 in a consanguineous mating family.
Xing Q, Wang R, Chen B, Li L, Pan H, Li T, Ma X, Cao Y, Wang B
J Ovarian Res 2020 Apr 21;13(1):42. doi: 10.1186/s13048-020-00637-4. PMID: 32316999Free PMC Article
Is oocyte morphology prognostic of embryo developmental potential after ICSI?
Ebner T, Moser M, Tews G
Reprod Biomed Online 2006 Apr;12(4):507-12. doi: 10.1016/s1472-6483(10)62006-8. PMID: 16740226
Effects of a behavioural rhythm on conception probability and pregnancy outcome.
Boklage CE
Hum Reprod 1996 Oct;11(10):2276-84. doi: 10.1093/oxfordjournals.humrep.a019089. PMID: 9053399

Clinical prediction guides

Mendelian randomization and multi-omics approach analyses reveal impaired glucose metabolism and oxidative phosphorylation in visceral adipose tissue of women with polycystic ovary syndrome.
Zhang Y, Jiang X, Song X, Zhang J, Mao W, Chen W, Yuan S, Chen Y, Mu L, Zhao Y
Hum Reprod 2024 Dec 1;39(12):2785-2797. doi: 10.1093/humrep/deae244. PMID: 39448886
Impact of Bisphenol A and its alternatives on oocyte health: a scoping review.
Peters AE, Ford EA, Roman SD, Bromfield EG, Nixon B, Pringle KG, Sutherland JM
Hum Reprod Update 2024 Dec 1;30(6):653-691. doi: 10.1093/humupd/dmae025. PMID: 39277428Free PMC Article
Maturation outcomes are improved following Cryoleaf vitrification of immature human oocytes when compared to choline-based slow-freezing.
Combelles CM, Ceyhan ST, Wang H, Racowsky C
J Assist Reprod Genet 2011 Dec;28(12):1183-92. Epub 2011 Nov 17 doi: 10.1007/s10815-011-9674-x. PMID: 22089264Free PMC Article
Effects of a behavioural rhythm on conception probability and pregnancy outcome.
Boklage CE
Hum Reprod 1996 Oct;11(10):2276-84. doi: 10.1093/oxfordjournals.humrep.a019089. PMID: 9053399
Frequency and distribution of aneuploidy in human female gametes.
Pellestor F
Hum Genet 1991 Jan;86(3):283-8. doi: 10.1007/BF00202410. PMID: 1997383

Recent systematic reviews

Effect of COVID-19 vaccination on the outcome of in vitro fertilization: A systematic review and meta-analysis.
Zhang L, Sun X, Wang R, Ma F
Front Public Health 2023;11:1151999. Epub 2023 Apr 3 doi: 10.3389/fpubh.2023.1151999. PMID: 37077193Free PMC Article

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