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Oocyte maturation defect 6(OOMD6; OZEMA6)

MedGen UID:
1682649
•Concept ID:
C5193047
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6
 
Gene (location): ZP2 (16p12.3-12.2)
 
Monarch Initiative: MONDO:0032696
OMIM®: 618353

Definition

Oocyte/zygote/embryo maturation arrest-6 (OZEMA6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida (ZP) in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients (Dai 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
Thin zona pellucida
MedGen UID:
1700315
•Concept ID:
C5209250
•
Finding
Reduced thickness of the zona pellucida.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
Lower risk for Down syndrome associated with longer oral contraceptive use: a case-control study of women of advanced maternal age presenting for prenatal diagnosis.
Nagy GR, Győrffy B, Nagy B, Rigó J Jr
Contraception 2013 Apr;87(4):455-8. Epub 2012 Oct 4 doi: 10.1016/j.contraception.2012.08.040. PMID: 23040130

Recent clinical studies

Etiology

High-Salt Diet Causes Defective Oocyte Maturation and Embryonic Development to Impair Female Fertility in Mice.
He Q, Zheng Q, Liu Y, Miao Y, Zhang Y, Xu T, Bai S, Zhao X, Yang X, Xu Z
Mol Nutr Food Res 2023 Dec;67(23):e2300401. Epub 2023 Oct 20 doi: 10.1002/mnfr.202300401. PMID: 37863820
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
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
Association of Insulin Resistance and Elevated Androgen Levels with Polycystic Ovarian Syndrome (PCOS): A Review of Literature.
Xu Y, Qiao J
J Healthc Eng 2022;2022:9240569. Epub 2022 Mar 21 doi: 10.1155/2022/9240569. PMID: 35356614Free PMC Article
Long-term Hyperandrogenemia and/or Western-style Diet in Rhesus Macaque Females Impairs Preimplantation Embryogenesis.
Ravisankar S, Murphy MJ, Redmayne-Titley N, Davis B, Luo F, Takahashi D, Hennebold JD, Chavez SL
Endocrinology 2022 Apr 1;163(4) doi: 10.1210/endocr/bqac019. PMID: 35192701Free PMC Article
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

Diagnosis

Total fertilization failure after ICSI: insights into pathophysiology, diagnosis, and management through artificial oocyte activation.
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
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
Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome.
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
Chromosomal abnormalities in oocytes.
Plachot M
Mol Cell Endocrinol 2001 Oct 22;183 Suppl 1:S59-63. doi: 10.1016/s0303-7207(01)00577-9. PMID: 11576735

Therapy

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
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
A brief insight into the etiology, genetics, and immunology of polycystic ovarian syndrome (PCOS).
Siddiqui S, Mateen S, Ahmad R, Moin S
J Assist Reprod Genet 2022 Nov;39(11):2439-2473. Epub 2022 Oct 3 doi: 10.1007/s10815-022-02625-7. PMID: 36190593Free PMC Article
Long-term Hyperandrogenemia and/or Western-style Diet in Rhesus Macaque Females Impairs Preimplantation Embryogenesis.
Ravisankar S, Murphy MJ, Redmayne-Titley N, Davis B, Luo F, Takahashi D, Hennebold JD, Chavez SL
Endocrinology 2022 Apr 1;163(4) doi: 10.1210/endocr/bqac019. PMID: 35192701Free PMC Article
Embryological, clinical and ultrastructural study of human oocytes presenting indented zona pellucida.
Sousa M, Teixeira da Silva J, Silva J, Cunha M, Viana P, Oliveira E, Sá R, Soares C, Oliveira C, Barros A
Zygote 2015 Feb;23(1):145-57. Epub 2013 Sep 2 doi: 10.1017/S0967199413000403. PMID: 23992046
Fertility issues following hematopoietic stem cell transplantation.
Tichelli A, Rovó A
Expert Rev Hematol 2013 Aug;6(4):375-88. doi: 10.1586/17474086.2013.816507. PMID: 23991924

Prognosis

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
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
A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction.
Persson AS, Klement G, Almgren M, Sahlholm K, Nilsson J, Petersson S, Arhem P, Schalling M, Lavebratt C
BMC Neurosci 2005 Nov 23;6:65. doi: 10.1186/1471-2202-6-65. PMID: 16305740Free PMC Article
Relationship between meiotic spindle location with regard to the polar body position and oocyte developmental potential after ICSI.
Rienzi L, Ubaldi F, Martinez F, Iacobelli M, Minasi MG, Ferrero S, Tesarik J, Greco E
Hum Reprod 2003 Jun;18(6):1289-93. doi: 10.1093/humrep/deg274. PMID: 12773461
Prepregnancy testing for single-gene disorders by polar body analysis.
Verlinsky Y, Rechitsky S, Verlinsky O, Ivachnenko V, Lifchez A, Kaplan B, Moise J, Valle J, Borkowski A, Nefedova J, Goltsman E, Strom C, Kuliev A
Genet Test 1999;3(2):185-90. doi: 10.1089/gte.1999.3.185. PMID: 10464666

Clinical prediction guides

High-Salt Diet Causes Defective Oocyte Maturation and Embryonic Development to Impair Female Fertility in Mice.
He Q, Zheng Q, Liu Y, Miao Y, Zhang Y, Xu T, Bai S, Zhao X, Yang X, Xu Z
Mol Nutr Food Res 2023 Dec;67(23):e2300401. Epub 2023 Oct 20 doi: 10.1002/mnfr.202300401. PMID: 37863820
Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
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
Long-term Hyperandrogenemia and/or Western-style Diet in Rhesus Macaque Females Impairs Preimplantation Embryogenesis.
Ravisankar S, Murphy MJ, Redmayne-Titley N, Davis B, Luo F, Takahashi D, Hennebold JD, Chavez SL
Endocrinology 2022 Apr 1;163(4) doi: 10.1210/endocr/bqac019. PMID: 35192701Free PMC Article
Tri-directional anaphases as a novel chromosome segregation defect in human oocytes.
Haverfield J, Dean NL, Nöel D, Rémillard-Labrosse G, Paradis V, Kadoch IJ, FitzHarris G
Hum Reprod 2017 Jun 1;32(6):1293-1303. doi: 10.1093/humrep/dex083. PMID: 28449121Free PMC Article
Fertility issues following hematopoietic stem cell transplantation.
Tichelli A, Rovó A
Expert Rev Hematol 2013 Aug;6(4):375-88. doi: 10.1586/17474086.2013.816507. PMID: 23991924

Recent systematic reviews

Effects of vitamin D supplementation on ovulation and pregnancy in women with polycystic ovary syndrome: a systematic review and meta-analysis.
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
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.
Volozonoka L, Miskova A, Kornejeva L, Kempa I, Bargatina V, Gailite L
Reproduction 2022 Apr 22;163(6):351-363. doi: 10.1530/REP-21-0486. PMID: 35451369Free PMC Article
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

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