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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

Diverse impacts of female chromosomal polymorphisms on assisted reproduction outcomes: a retrospective cohort study.
Lu Y, Tian T, Chen L, Yan L, Chang L, Qiao J
BMC Pregnancy Childbirth 2024 Apr 27;24(1):331. doi: 10.1186/s12884-024-06532-w. PMID: 38678230Free PMC Article
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
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
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

Diagnosis

Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.
Zhang T, Ma Q, Shen Q, Jiang C, Zou F, Shen Y, Wang Y
J Assist Reprod Genet 2022 Sep;39(9):2125-2134. Epub 2022 Jul 21 doi: 10.1007/s10815-022-02574-1. PMID: 35861920Free 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
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
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

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
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
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
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

Prognosis

Identification of novel biallelic variants in BMP15 in two siblings with premature ovarian insufficiency.
Zhang T, Ma Q, Shen Q, Jiang C, Zou F, Shen Y, Wang Y
J Assist Reprod Genet 2022 Sep;39(9):2125-2134. Epub 2022 Jul 21 doi: 10.1007/s10815-022-02574-1. PMID: 35861920Free PMC Article
Fertility preservation and PGT-M in women with familial adenomatous polyposis-associated desmoid tumours.
Fouks Y, Sheiman V, Goaz S, Malcov M, Hasson Y, Azem F
Reprod Biomed Online 2021 Oct;43(4):637-644. Epub 2021 Jul 22 doi: 10.1016/j.rbmo.2021.07.010. PMID: 34429254
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
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

Clinical prediction guides

Diverse impacts of female chromosomal polymorphisms on assisted reproduction outcomes: a retrospective cohort study.
Lu Y, Tian T, Chen L, Yan L, Chang L, Qiao J
BMC Pregnancy Childbirth 2024 Apr 27;24(1):331. doi: 10.1186/s12884-024-06532-w. PMID: 38678230Free PMC Article
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
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

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