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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): Gene(s) directly associated with this condition or phenotype.	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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Abnormality of prenatal development or birth
- Zygotic cleavage failure
Abnormality of the genitourinary system

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Inherited oocyte maturation defect
- Oocyte maturation defect 9

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

See all (1)

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

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

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: 32772081 Free PMC Article

See all (47)

Diagnosis

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

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: 31577258 Free 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

See all (14)

Therapy

Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study.

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: 35925538 Free 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: 31902102 Free 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

See all (25)

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: 35861920 Free PMC Article

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: 32772081 Free PMC Article

Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment.

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

See all (10)

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: 38007525 Free 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: 32772081 Free 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

See all (32)

MedGen

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Oocyte maturation defect 9(OOMD9; OZEMA9)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

Recent activity