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Oocyte maturation defect 5(OOMD5; OZEMA5)

MedGen UID:
1644330
•Concept ID:
C4693865
•
Gene or Genome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 5
 
Gene (location): WEE2 (7q34)
 
Monarch Initiative: MONDO:0020837
OMIM®: 617996

Definition

Oocyte/zygote/embryo maturation arrest-5 (OZEMA5) is characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure (Sang et al., 2018). For a 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
Lack of oocyte pronucleus formation
MedGen UID:
1842028
•Concept ID:
C5826611
•
Cell or Molecular Dysfunction
An abnormality of oocyte maturation characterized by the inability of oocytes to form pronuclei after in vitro fertilization procedures. Oocytes normally show two pronuclei 17 to 20 hours after in vitro insemination.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Preimplantation genetic testing in assisted reproduction technology.
Fesahat F, Montazeri F, Hoseini SM
J Gynecol Obstet Hum Reprod 2020 May;49(5):101723. Epub 2020 Feb 26 doi: 10.1016/j.jogoh.2020.101723. PMID: 32113002
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

Telomeres and oocyte maturation rate are not reduced by COVID-19 except in severe cases.
Chico-Sordo L, Polonio AM, Córdova-Oriz I, Medrano M, Herraiz S, Bronet F, García-Velasco JA, Varela E
Reproduction 2022 Nov 1;164(5):259-267. Epub 2022 Oct 17 doi: 10.1530/REP-22-0243. PMID: 36136831
Laparoscopic Oocyte Retrieval and Cryopreservation during Vaginoplasty for Treatment of Mayer-Rokitansky-Kuster-Hauser Syndrome.
Vanni VS, Alteri A, De Santis L, Cermisoni GC, Rabellotti E, Delprato D, Parma M, Papaleo E, Fedele L, Candiani M
J Vis Exp 2022 May 10;(183) doi: 10.3791/63634. PMID: 35635474
Bisphenol A: an emerging threat to female fertility.
Pivonello C, Muscogiuri G, Nardone A, Garifalos F, Provvisiero DP, Verde N, de Angelis C, Conforti A, Piscopo M, Auriemma RS, Colao A, Pivonello R
Reprod Biol Endocrinol 2020 Mar 14;18(1):22. doi: 10.1186/s12958-019-0558-8. PMID: 32171313Free PMC Article
Chromosomal abnormalities in oocytes.
Plachot M
Mol Cell Endocrinol 2001 Oct 22;183 Suppl 1:S59-63. doi: 10.1016/s0303-7207(01)00577-9. PMID: 11576735
Pregnancies in women with Turner's syndrome.
Hovatta O
Ann Med 1999 Apr;31(2):106-10. PMID: 10344582

Diagnosis

Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Bisphenol A: an emerging threat to female fertility.
Pivonello C, Muscogiuri G, Nardone A, Garifalos F, Provvisiero DP, Verde N, de Angelis C, Conforti A, Piscopo M, Auriemma RS, Colao A, Pivonello R
Reprod Biol Endocrinol 2020 Mar 14;18(1):22. doi: 10.1186/s12958-019-0558-8. PMID: 32171313Free PMC Article
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
Oocyte activation deficiency: a role for an oocyte contribution?
Yeste M, Jones C, Amdani SN, Patel S, Coward K
Hum Reprod Update 2016 Jan-Feb;22(1):23-47. Epub 2015 Sep 7 doi: 10.1093/humupd/dmv040. PMID: 26346057
Chromosomal abnormalities in oocytes.
Plachot M
Mol Cell Endocrinol 2001 Oct 22;183 Suppl 1:S59-63. doi: 10.1016/s0303-7207(01)00577-9. PMID: 11576735

Therapy

Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study.
Hatirnaz S, Hatirnaz E, Urkmez SS, Calıskan CS, Celik S, Hatirnaz K, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Mar;48(3):103620. Epub 2023 Oct 14 doi: 10.1016/j.rbmo.2023.103620. PMID: 38194886
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Glycine ameliorates MBP-induced meiotic abnormalities and apoptosis by regulating mitochondrial-endoplasmic reticulum interactions in porcine oocytes.
Gao L, Zhang C, Yu S, Liu S, Wang G, Lan H, Zheng X, Li S
Environ Pollut 2022 Sep 15;309:119756. Epub 2022 Jul 12 doi: 10.1016/j.envpol.2022.119756. PMID: 35839969
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Bisphenol A: an emerging threat to female fertility.
Pivonello C, Muscogiuri G, Nardone A, Garifalos F, Provvisiero DP, Verde N, de Angelis C, Conforti A, Piscopo M, Auriemma RS, Colao A, Pivonello R
Reprod Biol Endocrinol 2020 Mar 14;18(1):22. doi: 10.1186/s12958-019-0558-8. PMID: 32171313Free PMC Article

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
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
The effect of human sperm chromatin maturity on ICSI outcomes.
Gill K, Rosiak A, Gaczarzewicz D, Jakubik J, Kurzawa R, Kazienko A, Rymaszewska A, Laszczynska M, Grochans E, Piasecka M
Hum Cell 2018 Jul;31(3):220-231. Epub 2018 Mar 29 doi: 10.1007/s13577-018-0203-4. PMID: 29594950
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
An intracellular trafficking defect in type I cystinuria rBAT mutants M467T and M467K.
Chillarón J, Estévez R, Samarzija I, Waldegger S, Testar X, Lang F, Zorzano A, Busch A, Palacín M
J Biol Chem 1997 Apr 4;272(14):9543-9. doi: 10.1074/jbc.272.14.9543. PMID: 9083097

Clinical prediction guides

Comparison of luteal phase and follicular phase in-vitro maturation in women with oocyte maturation abnormalities.
Hatirnaz Ş, Hatirnaz E, Urkmez SS, Celik S, Urkmez' YC, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Apr;48(4):103648. Epub 2023 Oct 29 doi: 10.1016/j.rbmo.2023.103648. PMID: 38364519
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Parental chest computerized tomography examination before IVF/ICSI has no impact on pregnancy and neonatal outcomes: a cohort study of 2680 fresh transfer cycles.
Wang L, Li L, Zhao Y, Xu B, Yue J, Zhang H, Jin L
BMC Pregnancy Childbirth 2022 Dec 26;22(1):965. doi: 10.1186/s12884-022-05297-4. PMID: 36572853Free PMC Article
mtDNA mutations variously impact mtDNA maintenance throughout the human embryofetal development.
Steffann J, Monnot S, Bonnefont JP
Clin Genet 2015 Nov;88(5):416-24. Epub 2015 Feb 3 doi: 10.1111/cge.12557. PMID: 25523230
Biogenesis of peroxisomes in fetal liver.
Espeel M, Depreter M, Nardacci R, D'Herde K, Kerckaert I, Stefanini S, Roels F
Microsc Res Tech 1997 Dec 1;39(5):453-66. doi: 10.1002/(SICI)1097-0029(19971201)39:5<453::AID-JEMT8>3.0.CO;2-H. PMID: 9408912

Recent systematic reviews

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
Yang M, Shen X, Lu D, Peng J, Zhou S, Xu L, Zhang J
Front Endocrinol (Lausanne) 2023;14:1148556. Epub 2023 Aug 1 doi: 10.3389/fendo.2023.1148556. PMID: 37593349Free PMC Article
Unilateral pleural effusion as the sole clinical presentation of severe ovarian hyperstimulation syndrome: a systematic review.
Irani M, Robles A, Gunnala V, Chung P, Rosenwaks Z
Gynecol Endocrinol 2018 Feb;34(2):92-99. Epub 2017 Oct 24 doi: 10.1080/09513590.2017.1390738. PMID: 29063807

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    Related information

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    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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