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Oocyte maturation defect 4(OOMD4; OZEMA4)

MedGen UID:
1616340
•Concept ID:
C4540284
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4
 
Gene (location): PATL2 (15q21.1)
 
Monarch Initiative: MONDO:0021575
OMIM®: 617743

Definition

Oocyte maturation defects due to mutation in PATL2 show phenotypic variability, with some oocytes exhibiting maturation arrest at the germinal vesicle stage and others at the metaphase I stage. In some patients, a few oocytes progress to polar body I; those oocytes either undergo fertilization failure or, in those that are fertilized, early embryonic arrest (Chen et al., 2017). [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
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

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
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

Recent clinical studies

Etiology

TUBB8 mutations as a cause of oocyte maturation abnormalities: presentation of oocyte and embryo profiles and novel mutations.
Ebru H, Dahan MH, Sezer O, Başbuğ A, Kaan H, Güngör ND, Baltacı V, Tan SL, Şafak H
Reprod Biomed Online 2023 Nov;47(5):103257. Epub 2023 Jun 26 doi: 10.1016/j.rbmo.2023.06.012. PMID: 37672871
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
Intracytoplasmic sperm injection indications: how rigorous?
Babayev SN, Park CW, Bukulmez O
Semin Reprod Med 2014 Jul;32(4):283-90. Epub 2014 Jun 11 doi: 10.1055/s-0034-1375180. PMID: 24919027
An update on primary ovarian insufficiency.
Jin M, Yu Y, Huang H
Sci China Life Sci 2012 Aug;55(8):677-86. Epub 2012 Aug 30 doi: 10.1007/s11427-012-4355-2. PMID: 22932883
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

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
Molecular tools for the genomic assessment of oocyte's reproductive competence.
Picchetta L, Caroselli S, Figliuzzi M, Cogo F, Zambon P, Costa M, Pergher I, Patassini C, Cortellessa F, Zuccarello D, Poli M, Capalbo A; SIERR
J Assist Reprod Genet 2022 Apr;39(4):847-860. Epub 2022 Feb 5 doi: 10.1007/s10815-022-02411-5. PMID: 35124783Free PMC Article
Neurotrophins and glial cell line-derived neurotrophic factor in the ovary: physiological and pathophysiological implications.
Chang HM, Wu HC, Sun ZG, Lian F, Leung PCK
Hum Reprod Update 2019 Mar 1;25(2):224-242. doi: 10.1093/humupd/dmy047. PMID: 30608586Free PMC Article
Intracytoplasmic sperm injection indications: how rigorous?
Babayev SN, Park CW, Bukulmez O
Semin Reprod Med 2014 Jul;32(4):283-90. Epub 2014 Jun 11 doi: 10.1055/s-0034-1375180. PMID: 24919027
An update on primary ovarian insufficiency.
Jin M, Yu Y, Huang H
Sci China Life Sci 2012 Aug;55(8):677-86. Epub 2012 Aug 30 doi: 10.1007/s11427-012-4355-2. PMID: 22932883

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
Gonadotropins as pharmacological agents in assisted reproductive technology and polycystic ovary syndrome.
Singh R, Kaur S, Yadav S, Bhatia S
Trends Endocrinol Metab 2023 Apr;34(4):194-215. Epub 2023 Feb 28 doi: 10.1016/j.tem.2023.02.002. PMID: 36863888
Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest.
Capalbo A, Buonaiuto S, Figliuzzi M, Damaggio G, Girardi L, Caroselli S, Poli M, Patassini C, Cetinkaya M, Yuksel B, Azad A, Grøndahl ML, Hoffmann ER, Simón C, Colonna V, Kahraman S
Reprod Biomed Online 2022 Sep;45(3):508-518. Epub 2022 May 21 doi: 10.1016/j.rbmo.2022.05.009. PMID: 35798635
Intracytoplasmic sperm injection indications: how rigorous?
Babayev SN, Park CW, Bukulmez O
Semin Reprod Med 2014 Jul;32(4):283-90. Epub 2014 Jun 11 doi: 10.1055/s-0034-1375180. PMID: 24919027
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Prognosis

Novel PATL2 variants cause female infertility with oocyte maturation defect.
Hu HY, Zhang GH, Deng WF, Wei TY, Feng ZK, Li CX, Li SJ, Liu JE, Tian YP
J Assist Reprod Genet 2024 Aug;41(8):1965-1976. Epub 2024 Jul 2 doi: 10.1007/s10815-024-03150-5. PMID: 38954294Free PMC Article
Shared aspects of mRNA expression associated with oocyte maturation failure in humans and rhesus monkeys indicating compromised oocyte quality.
Ruebel ML, Zambelli F, Schall PZ, Barragan M, VandeVoort CA, Vassena R, Latham KE
Physiol Genomics 2021 Apr 1;53(4):137-149. Epub 2021 Feb 8 doi: 10.1152/physiolgenomics.00155.2020. PMID: 33554756Free PMC Article
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C
Hum Reprod Update 2021 Feb 19;27(2):254-279. doi: 10.1093/humupd/dmaa044. PMID: 33197264
What role of estrogens in ovarian stimulation.
Laven JS, Fauser BC
Maturitas 2006 Jul 20;54(4):356-62. Epub 2006 Jun 19 doi: 10.1016/j.maturitas.2006.04.022. PMID: 16782289
Extracorporeal fertilization and embryo transfer.
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Clinical prediction guides

Novel PATL2 variants cause female infertility with oocyte maturation defect.
Hu HY, Zhang GH, Deng WF, Wei TY, Feng ZK, Li CX, Li SJ, Liu JE, Tian YP
J Assist Reprod Genet 2024 Aug;41(8):1965-1976. Epub 2024 Jul 2 doi: 10.1007/s10815-024-03150-5. PMID: 38954294Free PMC Article
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
Shared aspects of mRNA expression associated with oocyte maturation failure in humans and rhesus monkeys indicating compromised oocyte quality.
Ruebel ML, Zambelli F, Schall PZ, Barragan M, VandeVoort CA, Vassena R, Latham KE
Physiol Genomics 2021 Apr 1;53(4):137-149. Epub 2021 Feb 8 doi: 10.1152/physiolgenomics.00155.2020. PMID: 33554756Free PMC Article
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo A, Poli M, Riera-Escamilla A, Shukla V, Kudo Høffding M, Krausz C, Hoffmann ER, Simon C
Hum Reprod Update 2021 Feb 19;27(2):254-279. doi: 10.1093/humupd/dmaa044. PMID: 33197264
An update on primary ovarian insufficiency.
Jin M, Yu Y, Huang H
Sci China Life Sci 2012 Aug;55(8):677-86. Epub 2012 Aug 30 doi: 10.1007/s11427-012-4355-2. PMID: 22932883

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

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      OMIM records containing genes associated with phenotypes registered in MedGen
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