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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

Comparison of luteal phase and follicular phase in-vitro maturation in women with oocyte maturation abnormalities.
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
Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study.
Hatirnaz S, Hatirnaz E, Urkmez SS, Calıskan CS, Celik S, Hatirnaz K, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Mar;48(3):103620. Epub 2023 Oct 14 doi: 10.1016/j.rbmo.2023.103620. PMID: 38194886
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
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
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
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
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
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
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

Oocyte in-vitro maturation primed with letrozole-HCG versus FSH-HCG in women with oocyte maturation abnormalities: a retrospective study.
Hatirnaz S, Hatirnaz E, Urkmez SS, Calıskan CS, Celik S, Hatirnaz K, Cao M, Tan SL, Dahan MH
Reprod Biomed Online 2024 Mar;48(3):103620. Epub 2023 Oct 14 doi: 10.1016/j.rbmo.2023.103620. PMID: 38194886
Growth hormone replacement improved oocyte quality in a patient with hypopituitarism: A study of follicular fluid.
Scheffler F, Cabry R, Soyez M, Copin H, Ben Khalifa M, Devaux A, Desailloud R
Ann Endocrinol (Paris) 2021 Dec;82(6):590-596. Epub 2021 Jun 27 doi: 10.1016/j.ando.2021.05.003. PMID: 34186075
Live births after oocyte in vitro maturation with a prematuration step in women with polycystic ovary syndrome.
Vuong LN, Le AH, Ho VNA, Pham TD, Sanchez F, Romero S, De Vos M, Ho TM, Gilchrist RB, Smitz J
J Assist Reprod Genet 2020 Feb;37(2):347-357. Epub 2020 Jan 4 doi: 10.1007/s10815-019-01677-6. PMID: 31902102Free PMC Article
A modified vitrification method reduces spindle and chromosome abnormalities.
Liu M, Zhou W, Chu D, Fu L, Sha W, Liu S, Li Y
Syst Biol Reprod Med 2017 Jun;63(3):199-205. Epub 2017 Mar 9 doi: 10.1080/19396368.2017.1285370. PMID: 28277744
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

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
Pregnancy loss in pregnancies conceived after in vitro oocyte maturation, conventional in vitro fertilization, and intracytoplasmic sperm injection.
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

Clinical prediction guides

Comparison of luteal phase and follicular phase in-vitro maturation in women with oocyte maturation abnormalities.
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
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
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
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
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

Supplemental Content

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    Related information

    • ClinVar
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    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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