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Oocyte maturation defect 14(OZEMA14)

MedGen UID:
1840962
Concept ID:
C5830326
Disease or Syndrome
Synonyms: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14; OZEMA14
 
Gene (location): CDC20 (1p34.2)
 
Monarch Initiative: MONDO:0859521
OMIM®: 620276

Definition

Oocyte/zygote/embryo maturation arrest-14 (OZEMA14) is characterized by female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. The rare fertilized embryos that are transferred to the uterus fail to establish pregnancy after transfer (Zhao et al., 2020, Zhao et al., 2021, Huang et al., 2021, Xu et al., 2021). 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.
Oocyte maturation arrest
MedGen UID:
1838865
Concept ID:
C5826764
Cell or Molecular Dysfunction
Oocyte maturation arrest (OMA) can manifest as failed in vitro fetilization/intracytoplasmic sperm injection (IVF/ICSI) attempts using affected oocytes.

Professional guidelines

PubMed

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

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
Ma R, Wang S, Xue M, Zhang H, He Z, Jueraitetibaike K, Ge X, Chen L, Yao B
J Ovarian Res 2023 Apr 29;16(1):87. doi: 10.1186/s13048-023-01162-w. PMID: 37120599Free PMC Article
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
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
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

Diagnosis

Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
Leung ETY, Lee BKM, Lee CL, Tian X, Lam KKW, Li RHW, Ng EHY, Yeung WSB, Ou JP, Chiu PCN
Front Endocrinol (Lausanne) 2023;14:1135973. Epub 2023 Mar 20 doi: 10.3389/fendo.2023.1135973. PMID: 37020592Free PMC Article
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
Greenblatt EJ, Obniski R, Mical C, Spradling AC
Elife 2019 Nov 22;8 doi: 10.7554/eLife.49455. PMID: 31755866Free PMC Article
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

Therapy

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
Greco E, Scarselli F, Minasi MG, Casciani V, Zavaglia D, Dente D, Tesarik J, Franco G
Hum Reprod 2013 May;28(5):1155-60. Epub 2013 Mar 14 doi: 10.1093/humrep/det046. PMID: 23493114
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
Tarozzi N, Bizzaro D, Flamigni C, Borini A
Reprod Biomed Online 2007 Jun;14(6):746-57. doi: 10.1016/s1472-6483(10)60678-5. PMID: 17579991
Prasad AS
Clin Endocrinol Metab 1985 Aug;14(3):567-89. doi: 10.1016/s0300-595x(85)80007-4. PMID: 3905080

Prognosis

Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
Leung ETY, Lee BKM, Lee CL, Tian X, Lam KKW, Li RHW, Ng EHY, Yeung WSB, Ou JP, Chiu PCN
Front Endocrinol (Lausanne) 2023;14:1135973. Epub 2023 Mar 20 doi: 10.3389/fendo.2023.1135973. PMID: 37020592Free PMC Article
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
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

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
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
Leung ETY, Lee BKM, Lee CL, Tian X, Lam KKW, Li RHW, Ng EHY, Yeung WSB, Ou JP, Chiu PCN
Front Endocrinol (Lausanne) 2023;14:1135973. Epub 2023 Mar 20 doi: 10.3389/fendo.2023.1135973. PMID: 37020592Free PMC Article
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
Prasad AS
Clin Endocrinol Metab 1985 Aug;14(3):567-89. doi: 10.1016/s0300-595x(85)80007-4. PMID: 3905080

Recent systematic reviews

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

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