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Oocyte maturation defect 7(OOMD7; OZEMA7)

MedGen UID:
1684736
•Concept ID:
C5231407
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7
 
Gene (location): PANX1 (11q21)
 
Monarch Initiative: MONDO:0032810
OMIM®: 618550

Definition

Oocyte/zygote/embryo maturation arrest-7 (OZEMA7) is characterized by infertility due to oocyte death, which may occur before or after fertilization (Sang et al., 2019). 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
Increased oocyte death
MedGen UID:
1712135
•Concept ID:
C5397598
•
Cell or Molecular Dysfunction
An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.
See: Feature record | Search on this feature
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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
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z
Clin Epigenetics 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332Free PMC Article
Understanding follicle growth in vitro: Are we getting closer to obtaining mature oocytes from in vitro-grown follicles in human?
Guzel Y, Oktem O
Mol Reprod Dev 2017 Jul;84(7):544-559. Epub 2017 Jun 5 doi: 10.1002/mrd.22822. PMID: 28452156
Metformin in the treatment of clomiphene citrate-resistant women with polycystic ovary syndrome undergoing in vitro fertilisation treatment: a randomised controlled trial.
Qublan HS, Al-Khaderei S, Abu-Salem AN, Al-Zpoon A, Al-Khateeb M, Al-Ibrahim N, Megdadi M, Al-Ahmad N
J Obstet Gynaecol 2009 Oct;29(7):651-5. doi: 10.1080/01443610903147576. PMID: 19757275
Mitochondrial DNA content affects the fertilizability of human oocytes.
Reynier P, May-Panloup P, Chrétien MF, Morgan CJ, Jean M, Savagner F, Barrière P, Malthièry Y
Mol Hum Reprod 2001 May;7(5):425-9. doi: 10.1093/molehr/7.5.425. PMID: 11331664

Diagnosis

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z
Clin Epigenetics 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332Free PMC Article
A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertility.
Yang P, Chen T, Wu K, Hou Z, Zou Y, Li M, Zhang X, Xu J, Zhao H
Hum Reprod 2021 Jun 18;36(7):2011-2019. doi: 10.1093/humrep/deab094. PMID: 33893736
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility.
Tatone C, Di Emidio G, Barbonetti A, Carta G, Luciano AM, Falone S, Amicarelli F
Hum Reprod Update 2018 May 1;24(3):267-289. doi: 10.1093/humupd/dmy003. PMID: 29447380
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
Genetic and teratogenic effects of cancer treatments on gametes and embryos.
Arnon J, Meirow D, Lewis-Roness H, Ornoy A
Hum Reprod Update 2001 Jul-Aug;7(4):394-403. doi: 10.1093/humupd/7.4.394. PMID: 11476352

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
Metformin in the treatment of clomiphene citrate-resistant women with polycystic ovary syndrome undergoing in vitro fertilisation treatment: a randomised controlled trial.
Qublan HS, Al-Khaderei S, Abu-Salem AN, Al-Zpoon A, Al-Khateeb M, Al-Ibrahim N, Megdadi M, Al-Ahmad N
J Obstet Gynaecol 2009 Oct;29(7):651-5. doi: 10.1080/01443610903147576. PMID: 19757275
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
Oocyte dysmorphism and aneuploidy in meiotically mature human oocytes after ovarian stimulation.
Van Blerkom J, Henry G
Hum Reprod 1992 Mar;7(3):379-90. doi: 10.1093/oxfordjournals.humrep.a137655. PMID: 1587948
Experimental and clinical studies on the reproductive toxicology of 2,3,7,8-tetrachlorodibenzo-p-dioxin.
Silbergeld EK, Mattison DR
Am J Ind Med 1987;11(2):131-44. doi: 10.1002/ajim.4700110203. PMID: 3548340

Prognosis

Nomogram to predict the probability of clinical pregnancy in women with poor ovarian response undergoing in vitro fertilization/ intracytoplasmic sperm injection cycles.
Zhu S, Jiang W, Sun Y, Chen L, Li R, Chen X, Zheng B
Arch Gynecol Obstet 2024 Sep;310(3):1697-1707. Epub 2024 Jun 24 doi: 10.1007/s00404-024-07598-9. PMID: 38913207
A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertility.
Yang P, Chen T, Wu K, Hou Z, Zou Y, Li M, Zhang X, Xu J, Zhao H
Hum Reprod 2021 Jun 18;36(7):2011-2019. doi: 10.1093/humrep/deab094. PMID: 33893736
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
Predictive value of selected sperm parameters for classical in vitro fertilization procedure of oocyte fertilization.
Jedrzejczak P, Pawelczyk L, Taszarek-Hauke G, Kotwicka M, Warchoł W, Kurpisz M
Andrologia 2005 Jun;37(2-3):72-82. doi: 10.1111/j.1439-0272.2005.00657.x. PMID: 16026428

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
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
Eggermann T, Yapici E, Bliek J, Pereda A, Begemann M, Russo S, Tannorella P, Calzari L, de Nanclares GP, Lombardi P, Temple IK, Mackay D, Riccio A, Kagami M, Ogata T, Lapunzina P, Monk D, Maher ER, Tümer Z
Clin Epigenetics 2022 Mar 16;14(1):41. doi: 10.1186/s13148-022-01259-x. PMID: 35296332Free PMC Article
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility.
Tatone C, Di Emidio G, Barbonetti A, Carta G, Luciano AM, Falone S, Amicarelli F
Hum Reprod Update 2018 May 1;24(3):267-289. doi: 10.1093/humupd/dmy003. PMID: 29447380
Estrogen receptor β controls MMP-19 expression in mouse ovaries during ovulation.
Nalvarte I, Töhönen V, Lindeberg M, Varshney M, Gustafsson JÅ, Inzunza J
Reproduction 2016 Mar;151(3):253-9. Epub 2015 Dec 23 doi: 10.1530/REP-15-0522. PMID: 26700939
Chromosome cohesion decreases in human eggs with advanced maternal age.
Duncan FE, Hornick JE, Lampson MA, Schultz RM, Shea LD, Woodruff TK
Aging Cell 2012 Dec;11(6):1121-4. Epub 2012 Aug 27 doi: 10.1111/j.1474-9726.2012.00866.x. PMID: 22823533Free PMC Article

Recent systematic reviews

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

Supplemental Content

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    Related information

    • ClinVar
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      Related information in NCBI Gene
    • GTR
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      Clinical tests in GTR
    • OMIM
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
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