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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.
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.

Recent clinical studies

Etiology

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
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
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
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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
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
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

Recent systematic reviews

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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