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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.
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.

Professional guidelines

PubMed

Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
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
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

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
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
Ebner T, Montag M; Oocyte Activation Study Group, Montag M, Van der Ven K, Van der Ven H, Ebner T, Shebl O, Oppelt P, Hirchenhain J, Krüssel J, Maxrath B, Gnoth C, Friol K, Tigges J, Wünsch E, Luckhaus J, Beerkotte A, Weiss D, Grunwald K, Struller D, Etien C
Reprod Biomed Online 2015 Apr;30(4):359-65. Epub 2014 Dec 9 doi: 10.1016/j.rbmo.2014.11.012. PMID: 25596904
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
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

Diagnosis

Zhou Z, Fan H, Shi R, Zeng Y, Liu R, Gu H, Li Q, Sang Q, Wang L, Shi J, Chen B
Clin Genet 2023 Oct;104(4):461-465. Epub 2023 May 21 doi: 10.1111/cge.14362. PMID: 37211617
Campos G, Sciorio R, Esteves SC
Hum Reprod Update 2023 Jul 5;29(4):369-394. doi: 10.1093/humupd/dmad007. PMID: 36977357
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
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
Ebner T, Montag M; Oocyte Activation Study Group, Montag M, Van der Ven K, Van der Ven H, Ebner T, Shebl O, Oppelt P, Hirchenhain J, Krüssel J, Maxrath B, Gnoth C, Friol K, Tigges J, Wünsch E, Luckhaus J, Beerkotte A, Weiss D, Grunwald K, Struller D, Etien C
Reprod Biomed Online 2015 Apr;30(4):359-65. Epub 2014 Dec 9 doi: 10.1016/j.rbmo.2014.11.012. PMID: 25596904

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
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
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
Tichelli A, Rovó A
Expert Rev Hematol 2013 Aug;6(4):375-88. doi: 10.1586/17474086.2013.816507. PMID: 23991924
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

Prognosis

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
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
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
Fakih H, Marshall J
Fertil Steril 1994 Oct;62(4):799-801. doi: 10.1016/s0015-0282(16)57007-1. PMID: 7926090
Trounson A, Wood C
Clin Obstet Gynaecol 1981 Dec;8(3):681-713. PMID: 6459203

Clinical prediction guides

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
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
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
Tichelli A, Rovó A
Expert Rev Hematol 2013 Aug;6(4):375-88. doi: 10.1586/17474086.2013.816507. PMID: 23991924
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

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