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Oocyte maturation defect 10(OOMD10; OZEMA10)

MedGen UID:
1766720
Concept ID:
C5436938
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10
 
Gene (location): REC114 (15q24.1)
 
Monarch Initiative: MONDO:0030925
OMIM®: 619176

Definition

Oocyte/zygote/embryo maturation arrest-10 (OZEMA10) is characterized by high rates of abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus. Morphologically normal zygotes often undergo early embryonic arrest, and surviving embryos fail to establish a successful pregnancy after implantation (Wang 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.
Repeated implantation failure
MedGen UID:
1779076
Concept ID:
C5539773
Finding
Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles.
Formation of multiple pronuclei during fertilization
MedGen UID:
1781576
Concept ID:
C5539859
Cell or Molecular Dysfunction
Pronuclei formation is a critical process during fertilization. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilization. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilization with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI.

Professional guidelines

PubMed

Bukovsky A, Caudle MR
Reprod Biol Endocrinol 2012 Nov 23;10:97. doi: 10.1186/1477-7827-10-97. PMID: 23176151Free PMC Article
Tesarik J, Mendoza C
Front Biosci 2007 Jan 1;12:105-14. doi: 10.2741/2051. PMID: 17127286
Howles CM, Kim CH, Elder K
Int Surg 2006 Sep-Oct;91(5 Suppl):S37-54. PMID: 17436604

Recent clinical studies

Etiology

Gayete-Lafuente S, Vilà Famada A, Albayrak N, Espinós Gómez JJ, Checa Vizcaíno MÁ, Moreno-Sepulveda J
Reprod Biomed Online 2024 Sep;49(3):104075. Epub 2024 Apr 20 doi: 10.1016/j.rbmo.2024.104075. PMID: 38943812
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
Xu Y, Qiao J
J Healthc Eng 2022;2022:9240569. Epub 2022 Mar 21 doi: 10.1155/2022/9240569. PMID: 35356614Free PMC Article
Shirane K, Miura F, Ito T, Lorincz MC
Nat Genet 2020 Oct;52(10):1088-1098. Epub 2020 Sep 14 doi: 10.1038/s41588-020-0689-z. PMID: 32929285
Guglielmino MR, Santonocito M, Vento M, Ragusa M, Barbagallo D, Borzì P, Casciano I, Banelli B, Barbieri O, Astigiano S, Scollo P, Romani M, Purrello M, Di Pietro C
Cell Cycle 2011 Oct 1;10(19):3253-6. doi: 10.4161/cc.10.19.17585. PMID: 21946516Free PMC Article

Diagnosis

Gayete-Lafuente S, Vilà Famada A, Albayrak N, Espinós Gómez JJ, Checa Vizcaíno MÁ, Moreno-Sepulveda J
Reprod Biomed Online 2024 Sep;49(3):104075. Epub 2024 Apr 20 doi: 10.1016/j.rbmo.2024.104075. PMID: 38943812
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
Yatsenko SA, Rajkovic A
Biol Reprod 2019 Sep 1;101(3):549-566. doi: 10.1093/biolre/ioz084. PMID: 31077289Free PMC Article
Yeste M, Jones C, Amdani SN, Patel S, Coward K
Hum Reprod Update 2016 Jan-Feb;22(1):23-47. Epub 2015 Sep 7 doi: 10.1093/humupd/dmv040. PMID: 26346057
Machtinger R, Combelles CM, Missmer SA, Correia KF, Williams P, Hauser R, Racowsky C
Hum Reprod 2013 Oct;28(10):2735-45. Epub 2013 Jul 30 doi: 10.1093/humrep/det312. PMID: 23904465Free PMC Article

Therapy

Lin L, Chen G, Qiao X, Chen Y, Deng H, Xu L
J Ovarian Res 2024 Dec 19;17(1):249. doi: 10.1186/s13048-024-01576-0. PMID: 39702393Free PMC Article
Gayete-Lafuente S, Vilà Famada A, Albayrak N, Espinós Gómez JJ, Checa Vizcaíno MÁ, Moreno-Sepulveda J
Reprod Biomed Online 2024 Sep;49(3):104075. Epub 2024 Apr 20 doi: 10.1016/j.rbmo.2024.104075. PMID: 38943812
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
Machtinger R, Combelles CM, Missmer SA, Correia KF, Williams P, Hauser R, Racowsky C
Hum Reprod 2013 Oct;28(10):2735-45. Epub 2013 Jul 30 doi: 10.1093/humrep/det312. PMID: 23904465Free PMC Article
Howles CM, Kim CH, Elder K
Int Surg 2006 Sep-Oct;91(5 Suppl):S37-54. PMID: 17436604

Prognosis

Candiani M, Vanni VS, Papaleo E, Delprato D, Tandoi I, Gervasio V, Parma M, Corti L, Girardelli S, Fedele L
J Minim Invasive Gynecol 2020 Jan;27(1):74-79. Epub 2019 May 23 doi: 10.1016/j.jmig.2019.02.023. PMID: 31129299
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
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
Howles CM, Kim CH, Elder K
Int Surg 2006 Sep-Oct;91(5 Suppl):S37-54. PMID: 17436604
Terriou P, Sapin C, Giorgetti C, Hans E, Spach JL, Roulier R
Fertil Steril 2001 Mar;75(3):525-31. doi: 10.1016/s0015-0282(00)01741-6. PMID: 11239536

Clinical prediction guides

Lava Kumar S, Kushawaha B, Mohanty A, Kumari A, Kumar A, Beniwal R, Kiran Kumar P, Athar M, Krishna Rao D, Rao HBDP
Biochim Biophys Acta Mol Basis Dis 2024 Aug;1870(6):167235. Epub 2024 May 12 doi: 10.1016/j.bbadis.2024.167235. PMID: 38744343
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
Bukovsky A, Caudle MR
Reprod Biol Endocrinol 2012 Nov 23;10:97. doi: 10.1186/1477-7827-10-97. PMID: 23176151Free PMC Article
Howles CM, Kim CH, Elder K
Int Surg 2006 Sep-Oct;91(5 Suppl):S37-54. PMID: 17436604
Terriou P, Sapin C, Giorgetti C, Hans E, Spach JL, Roulier R
Fertil Steril 2001 Mar;75(3):525-31. doi: 10.1016/s0015-0282(00)01741-6. PMID: 11239536

Recent systematic reviews

Li X, Cao Y, Lin J, Cai R, Zhang L, Liu Y
J Obstet Gynaecol 2025 Dec;45(1):2444496. Epub 2024 Dec 28 doi: 10.1080/01443615.2024.2444496. PMID: 39731472
Lin L, Chen G, Qiao X, Chen Y, Deng H, Xu L
J Ovarian Res 2024 Dec 19;17(1):249. doi: 10.1186/s13048-024-01576-0. PMID: 39702393Free PMC Article
Gayete-Lafuente S, Vilà Famada A, Albayrak N, Espinós Gómez JJ, Checa Vizcaíno MÁ, Moreno-Sepulveda J
Reprod Biomed Online 2024 Sep;49(3):104075. Epub 2024 Apr 20 doi: 10.1016/j.rbmo.2024.104075. PMID: 38943812
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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