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Oocyte maturation defect 9(OOMD9; OZEMA9)

MedGen UID:
1724427
•Concept ID:
C5436599
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9
 
Gene (location): TRIP13 (5p15.33)
 
Monarch Initiative: MONDO:0033565
OMIM®: 619011

Definition

Oocyte/zygote/embryo maturation arrest-9 (OZEMA9) is characterized by female infertility due to oocyte meiotic arrest at metaphase I in most patients. Abnormal zygotic cleavage has also been observed (Zhang et al., 2020). 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
Abnormality of the menstrual cycle
MedGen UID:
893088
•Concept ID:
C4025888
•
Finding
An abnormality of the ovulation cycle.
See: Feature record | Search on this feature
Oocyte arrest at metaphase I
MedGen UID:
897067
•Concept ID:
C4227845
•
Cell or Molecular Dysfunction
Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage.
See: Feature record | Search on this feature
Zygotic cleavage failure
MedGen UID:
1741839
•Concept ID:
C5436598
•
Cell or Molecular Dysfunction
Failure of a fertilized oocyte to undergo the first round of cell division.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

The role of oocyte maturity in the treatment of infertility because of teratozoospermia and normozoospermia with gamete intrafallopian transfer.
van der Merwe JP, Kruger TF, Swart Y, Lombard CJ
Fertil Steril 1992 Sep;58(3):581-6. doi: 10.1016/s0015-0282(16)55267-4. PMID: 1521655

Recent clinical studies

Etiology

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
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
The effectiveness of Paraffin oil and Mineral oil for day-5 embryo culture in couples undergoing in vitro fertilisation.
Pham HH, Dang QT, Nguyen HN, Tran CT, Pham QT, Mol BW, Dang VQ
Eur J Obstet Gynecol Reprod Biol 2022 Aug;275:59-63. Epub 2022 Jun 18 doi: 10.1016/j.ejogrb.2022.06.014. PMID: 35749967
Aberrant DNA methylation of imprinted loci in human in vitro matured oocytes after long agonist stimulation.
Shi X, Chen S, Zheng H, Wang L, Wu Y
Eur J Obstet Gynecol Reprod Biol 2013 Mar;167(1):64-8. Epub 2012 Nov 16 doi: 10.1016/j.ejogrb.2012.10.037. PMID: 23164503
Subsequent therapeutic options and outcome in couples who fail to fertilize despite in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI).
Horwath D, Check JH, Katsoff B, Amui J, Brasile D
Clin Exp Obstet Gynecol 2007;34(2):109-10. PMID: 17629166

Diagnosis

Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency.
Rossetti R, Ferrari I, Bestetti I, Moleri S, Brancati F, Petrone L, Finelli P, Persani L
Hum Mutat 2020 May;41(5):983-997. Epub 2020 Feb 6 doi: 10.1002/humu.23988. PMID: 31957178
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
Beyond the lungs: Alpha-1 antitrypsin's potential role in human gestation.
Jezela-Stanek A, Chorostowska-Wynimko J
Adv Clin Exp Med 2019 Sep;28(9):1257-1261. doi: 10.17219/acem/103668. PMID: 30929319
The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders.
Persani L, Rossetti R, Di Pasquale E, Cacciatore C, Fabre S
Hum Reprod Update 2014 Nov-Dec;20(6):869-83. Epub 2014 Jun 30 doi: 10.1093/humupd/dmu036. PMID: 24980253
The investigation of idiopathic infertility by in vitro fertilization.
Trounson AO, Leeton JF, Wood C, Webb J, Kovacs G
Fertil Steril 1980 Nov;34(5):431-8. doi: 10.1016/s0015-0282(16)45132-0. PMID: 7439409

Therapy

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
Shoutai pills improve the quality of oocytes exposed to the chemotherapeutic drug Hydroxyurea.
Zhang Y, Tan R, Wang L, Shi X, Li Y, Zhong X, He X, Xiong B
Aging (Albany NY) 2020 May 10;12(9):8473-8483. doi: 10.18632/aging.103152. PMID: 32388496Free PMC Article
Aberrant DNA methylation of imprinted loci in human in vitro matured oocytes after long agonist stimulation.
Shi X, Chen S, Zheng H, Wang L, Wu Y
Eur J Obstet Gynecol Reprod Biol 2013 Mar;167(1):64-8. Epub 2012 Nov 16 doi: 10.1016/j.ejogrb.2012.10.037. PMID: 23164503
Rhesus macaque embryos derived from MI oocytes maturing after retrieval display high rates of chromosomal anomalies.
Dupont C, Bavister BD, Armant DR, Brenner CA
Hum Reprod 2009 Apr;24(4):929-35. Epub 2008 Dec 23 doi: 10.1093/humrep/den429. PMID: 19106174Free PMC Article
Subsequent therapeutic options and outcome in couples who fail to fertilize despite in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI).
Horwath D, Check JH, Katsoff B, Amui J, Brasile D
Clin Exp Obstet Gynecol 2007;34(2):109-10. PMID: 17629166

Prognosis

Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.
Tyc KM, El Yakoubi W, Bag A, Landis J, Zhan Y, Treff NR, Scott RT, Tao X, Schindler K, Xing J
Hum Reprod 2020 Sep 1;35(9):2134-2148. doi: 10.1093/humrep/deaa148. PMID: 32772081Free PMC Article
Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment.
Lanuza-López MC, Martínez-Garza SG, Solórzano-Vázquez JF, Paz-Cervantes D, González-Ortega C, Maldonado-Rosas I, Villegas-Moreno G, Villar-Muñoz LG, Arroyo-Méndez FA, Gutiérrez-Gutiérrez AM, Piña-Aguilar RE
Gynecol Endocrinol 2020 Sep;36(9):829-834. Epub 2020 Feb 17 doi: 10.1080/09513590.2020.1725968. PMID: 32063091
Novel zona pellucida gene variants identified in patients with oocyte anomalies.
Yang P, Luan X, Peng Y, Chen T, Su S, Zhang C, Wang Z, Cheng L, Zhang X, Wang Y, Chen ZJ, Zhao H
Fertil Steril 2017 Jun;107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. PMID: 28577617
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
Binovular human ovarian follicles associated with in vitro fertilization: incidence and outcome.
Ron-El R, Nachum H, Golan A, Herman A, Yigal S, Caspi E
Fertil Steril 1990 Nov;54(5):869-72. doi: 10.1016/s0015-0282(16)53948-x. PMID: 2226920

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
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
Experimentally Induced Hyperglycemia in Prepubertal Phase Impairs Oocyte Quality and Functionality in Adult Mice.
Predheepan D, Daddangadi A, Uppangala S, Laxminarayana SLK, Raval K, Kalthur G, Kovačič B, Adiga SK
Endocrinology 2022 Sep 1;163(9) doi: 10.1210/endocr/bqac121. PMID: 35917567
Posttranslational processing of mouse and human BMP-15: potential implication in the determination of ovulation quota.
Hashimoto O, Moore RK, Shimasaki S
Proc Natl Acad Sci U S A 2005 Apr 12;102(15):5426-31. Epub 2005 Apr 4 doi: 10.1073/pnas.0409533102. PMID: 15809424Free PMC Article
Sperm integrity is critical for normal mitotic division and early embryonic development.
Moomjy M, Colombero LT, Veeck LL, Rosenwaks Z, Palermo GD
Mol Hum Reprod 1999 Sep;5(9):836-44. doi: 10.1093/molehr/5.9.836. PMID: 10460222

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