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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

Defective oogenesis in mice with pristane-induced model of systemic lupus.
Delimitreva SM, Boneva GV, Chakarova IV, Hadzhinesheva VP, Zhivkova RS, Markova MD, Nikolova VP, Kolarov AI, Mladenov NJ, Bradyanova SL, Tchorbanov AI
J Reprod Immunol 2021 Nov;148:103370. Epub 2021 Sep 2 doi: 10.1016/j.jri.2021.103370. PMID: 34492566
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
Live births after oocyte in vitro maturation with a prematuration step in women with polycystic ovary syndrome.
Vuong LN, Le AH, Ho VNA, Pham TD, Sanchez F, Romero S, De Vos M, Ho TM, Gilchrist RB, Smitz J
J Assist Reprod Genet 2020 Feb;37(2):347-357. Epub 2020 Jan 4 doi: 10.1007/s10815-019-01677-6. PMID: 31902102Free PMC Article
Human in vitro oocyte maturation is not associated with increased imprinting error rates at LIT1, SNRPN, PEG3 and GTL2.
Kuhtz J, Romero S, De Vos M, Smitz J, Haaf T, Anckaert E
Hum Reprod 2014 Sep;29(9):1995-2005. Epub 2014 Jun 24 doi: 10.1093/humrep/deu155. PMID: 24963167
Metabolism and karyotype analysis of oocytes from patients with polycystic ovary syndrome.
Harris SE, Maruthini D, Tang T, Balen AH, Picton HM
Hum Reprod 2010 Sep;25(9):2305-15. Epub 2010 Jul 21 doi: 10.1093/humrep/deq181. PMID: 20659909

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
Human in vitro oocyte maturation is not associated with increased imprinting error rates at LIT1, SNRPN, PEG3 and GTL2.
Kuhtz J, Romero S, De Vos M, Smitz J, Haaf T, Anckaert E
Hum Reprod 2014 Sep;29(9):1995-2005. Epub 2014 Jun 24 doi: 10.1093/humrep/deu155. PMID: 24963167

Therapy

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
Live births after oocyte in vitro maturation with a prematuration step in women with polycystic ovary syndrome.
Vuong LN, Le AH, Ho VNA, Pham TD, Sanchez F, Romero S, De Vos M, Ho TM, Gilchrist RB, Smitz J
J Assist Reprod Genet 2020 Feb;37(2):347-357. Epub 2020 Jan 4 doi: 10.1007/s10815-019-01677-6. PMID: 31902102Free PMC Article
Human in vitro oocyte maturation is not associated with increased imprinting error rates at LIT1, SNRPN, PEG3 and GTL2.
Kuhtz J, Romero S, De Vos M, Smitz J, Haaf T, Anckaert E
Hum Reprod 2014 Sep;29(9):1995-2005. Epub 2014 Jun 24 doi: 10.1093/humrep/deu155. PMID: 24963167
Metabolism and karyotype analysis of oocytes from patients with polycystic ovary syndrome.
Harris SE, Maruthini D, Tang T, Balen AH, Picton HM
Hum Reprod 2010 Sep;25(9):2305-15. Epub 2010 Jul 21 doi: 10.1093/humrep/deq181. PMID: 20659909

Prognosis

Obstetric, neonatal and child development outcomes following assisted hatching treatment: a retrospective cohort study.
Shats M, Fenchel D, Katz G, Haas J, Machtinger R, Gat I, Orvieto R, Kedem A
Gynecol Endocrinol 2021 Jan;37(1):41-45. Epub 2020 Apr 27 doi: 10.1080/09513590.2020.1756248. PMID: 32338095
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
Novel phospholipase C zeta 1 mutations associated with fertilization failures after ICSI.
Torra-Massana M, Cornet-Bartolomé D, Barragán M, Durban M, Ferrer-Vaquer A, Zambelli F, Rodriguez A, Oliva R, Vassena R
Hum Reprod 2019 Aug 1;34(8):1494-1504. doi: 10.1093/humrep/dez094. PMID: 31347677
Pregnancy loss in pregnancies conceived after in vitro oocyte maturation, conventional in vitro fertilization, and intracytoplasmic sperm injection.
Buckett WM, Chian RC, Dean NL, Sylvestre C, Holzer HE, Tan SL
Fertil Steril 2008 Sep;90(3):546-50. Epub 2007 Sep 27 doi: 10.1016/j.fertnstert.2007.06.107. PMID: 17904128
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

Clinical prediction guides

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
CDC26 is a key factor in human oocyte aging.
Li L, Xia Y, Yang Y, Zhang W, Yan H, Yin P, Li K, Chen Y, Lu L, Tong G
Hum Reprod 2021 Nov 18;36(12):3095-3107. doi: 10.1093/humrep/deab217. PMID: 34590680
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
Beclin-1 knockdown shows abscission failure but not autophagy defect during oocyte meiotic maturation.
You SY, Park YS, Jeon HJ, Cho DH, Jeon HB, Kim SH, Chang JW, Kim JS, Oh JS
Cell Cycle 2016 Jun 17;15(12):1611-9. Epub 2016 May 5 doi: 10.1080/15384101.2016.1181235. PMID: 27149384Free 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

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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