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Oocyte maturation defect 7(OOMD7; OZEMA7)

MedGen UID:
1684736
•Concept ID:
C5231407
•
Disease or Syndrome
Synonym: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7
 
Gene (location): PANX1 (11q21)
 
Monarch Initiative: MONDO:0032810
OMIM®: 618550

Definition

Oocyte/zygote/embryo maturation arrest-7 (OZEMA7) is characterized by infertility due to oocyte death, which may occur before or after fertilization (Sang 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
Increased oocyte death
MedGen UID:
1712135
•Concept ID:
C5397598
•
Cell or Molecular Dysfunction
An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
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
Defective oogenesis in mice with pristane-induced model of systemic lupus.
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
Understanding follicle growth in vitro: Are we getting closer to obtaining mature oocytes from in vitro-grown follicles in human?
Guzel Y, Oktem O
Mol Reprod Dev 2017 Jul;84(7):544-559. Epub 2017 Jun 5 doi: 10.1002/mrd.22822. PMID: 28452156
Defective soil for a fertile seed? Altered endometrial development is detrimental to pregnancy success.
Evans J, Hannan NJ, Hincks C, Rombauts LJ, Salamonsen LA
PLoS One 2012;7(12):e53098. Epub 2012 Dec 31 doi: 10.1371/journal.pone.0053098. PMID: 23300868Free PMC Article
Genetic and teratogenic effects of cancer treatments on gametes and embryos.
Arnon J, Meirow D, Lewis-Roness H, Ornoy A
Hum Reprod Update 2001 Jul-Aug;7(4):394-403. doi: 10.1093/humupd/7.4.394. PMID: 11476352

Diagnosis

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
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
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
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility.
Tatone C, Di Emidio G, Barbonetti A, Carta G, Luciano AM, Falone S, Amicarelli F
Hum Reprod Update 2018 May 1;24(3):267-289. doi: 10.1093/humupd/dmy003. PMID: 29447380
Regulation of the epithelial Na+ channel by peptidases.
Planès C, Caughey GH
Curr Top Dev Biol 2007;78:23-46. doi: 10.1016/S0070-2153(06)78002-4. PMID: 17338914Free PMC Article
Genetic and teratogenic effects of cancer treatments on gametes and embryos.
Arnon J, Meirow D, Lewis-Roness H, Ornoy A
Hum Reprod Update 2001 Jul-Aug;7(4):394-403. doi: 10.1093/humupd/7.4.394. PMID: 11476352

Therapy

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
Spindle and chromosome configurations of human oocytes matured in vitro in two different culture media.
Christopikou D, Karamalegos C, Doriza S, Argyrou M, Sisi P, Davies S, Mastrominas M
Reprod Biomed Online 2010 May;20(5):639-48. Epub 2010 Feb 10 doi: 10.1016/j.rbmo.2010.02.005. PMID: 20347392
Obstetric outcomes and congenital abnormalities after in vitro maturation, in vitro fertilization, and intracytoplasmic sperm injection.
Buckett WM, Chian RC, Holzer H, Dean N, Usher R, Tan SL
Obstet Gynecol 2007 Oct;110(4):885-91. doi: 10.1097/01.AOG.0000284627.38540.80. PMID: 17906024
Genetic and teratogenic effects of cancer treatments on gametes and embryos.
Arnon J, Meirow D, Lewis-Roness H, Ornoy A
Hum Reprod Update 2001 Jul-Aug;7(4):394-403. doi: 10.1093/humupd/7.4.394. PMID: 11476352
Experimental and clinical studies on the reproductive toxicology of 2,3,7,8-tetrachlorodibenzo-p-dioxin.
Silbergeld EK, Mattison DR
Am J Ind Med 1987;11(2):131-44. doi: 10.1002/ajim.4700110203. PMID: 3548340

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
A homozygous variant in TBPL2 was identified in women with oocyte maturation defects and infertility.
Yang P, Chen T, Wu K, Hou Z, Zou Y, Li M, Zhang X, Xu J, Zhao H
Hum Reprod 2021 Jun 18;36(7):2011-2019. doi: 10.1093/humrep/deab094. PMID: 33893736
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
Pregnancy outcomes in women with repeated implantation failures after intracytoplasmic morphologically selected sperm injection (IMSI).
Oliveira JB, Cavagna M, Petersen CG, Mauri AL, Massaro FC, Silva LF, Baruffi RL, Franco JG Jr
Reprod Biol Endocrinol 2011 Jul 22;9:99. doi: 10.1186/1477-7827-9-99. PMID: 21781299Free PMC Article
Predictive value of selected sperm parameters for classical in vitro fertilization procedure of oocyte fertilization.
Jedrzejczak P, Pawelczyk L, Taszarek-Hauke G, Kotwicka M, Warchoł W, Kurpisz M
Andrologia 2005 Jun;37(2-3):72-82. doi: 10.1111/j.1439-0272.2005.00657.x. PMID: 16026428

Clinical prediction guides

Single nucleotide polymorphism array and cytogenetic analyses of ovarian teratomas in children.
Shao L, Heider A, Rabah R
Genes Chromosomes Cancer 2021 Jun;60(6):418-425. Epub 2021 Jan 8 doi: 10.1002/gcc.22934. PMID: 33377559
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
Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility.
Tatone C, Di Emidio G, Barbonetti A, Carta G, Luciano AM, Falone S, Amicarelli F
Hum Reprod Update 2018 May 1;24(3):267-289. doi: 10.1093/humupd/dmy003. PMID: 29447380
Defective soil for a fertile seed? Altered endometrial development is detrimental to pregnancy success.
Evans J, Hannan NJ, Hincks C, Rombauts LJ, Salamonsen LA
PLoS One 2012;7(12):e53098. Epub 2012 Dec 31 doi: 10.1371/journal.pone.0053098. PMID: 23300868Free PMC Article
Obstetric outcomes and congenital abnormalities after in vitro maturation, in vitro fertilization, and intracytoplasmic sperm injection.
Buckett WM, Chian RC, Holzer H, Dean N, Usher R, Tan SL
Obstet Gynecol 2007 Oct;110(4):885-91. doi: 10.1097/01.AOG.0000284627.38540.80. PMID: 17906024

Recent systematic reviews

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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