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Female infertility due to zona pellucida defect(OZEMA1)

MedGen UID:
862728
•Concept ID:
C4014291
•
Disease or Syndrome
Synonyms: Oocyte maturation defect 1; OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 1; OZEMA1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Gene (location): ZP1 (11q12.2)
 
Monarch Initiative: MONDO:0014342
OMIM®: 615774
Orphanet: ORPHA404466

Definition

Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. [from ORDO]

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
Absent zona pellucida
MedGen UID:
1054494
•Concept ID:
CN377137
•
Finding
Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Embryological Characteristics of Human Oocytes With Agar-Like Zona Pellucida and Its Clinical Treatment Strategy.
Yang D, Yang H, Yang B, Wang K, Zhu Q, Wang J, Ding F, Rao B, Xue R, Peng J, Wang Q, Cao Y, Zou W, Chen B, Zhang Z
Front Endocrinol (Lausanne) 2022;13:859361. Epub 2022 Jun 23 doi: 10.3389/fendo.2022.859361. PMID: 35813655Free PMC Article
Treatment of male infertility by gamete micromanipulation.
Laufer N, Simon A
Hum Reprod 1992 Jun;7 Suppl 1:73-80. doi: 10.1093/humrep/7.suppl_1.73. PMID: 1447371
Human sperm--egg interactions and their disorders: implications in the management of infertility.
Tesarik J, Testart J
Hum Reprod 1989 Oct;4(7):729-41. doi: 10.1093/oxfordjournals.humrep.a136975. PMID: 2691524

Recent clinical studies

Etiology

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
Embryological Characteristics of Human Oocytes With Agar-Like Zona Pellucida and Its Clinical Treatment Strategy.
Yang D, Yang H, Yang B, Wang K, Zhu Q, Wang J, Ding F, Rao B, Xue R, Peng J, Wang Q, Cao Y, Zou W, Chen B, Zhang Z
Front Endocrinol (Lausanne) 2022;13:859361. Epub 2022 Jun 23 doi: 10.3389/fendo.2022.859361. PMID: 35813655Free PMC Article
A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.
Loeuillet C, Dhellemmes M, Cazin C, Kherraf ZE, Fourati Ben Mustapha S, Zouari R, Thierry-Mieg N, Arnoult C, Ray PF
Clin Genet 2022 Jul;102(1):22-29. Epub 2022 Jun 1 doi: 10.1111/cge.14144. PMID: 35460069Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Recurrent implantation failure: gamete and embryo factors.
Das M, Holzer HE
Fertil Steril 2012 May;97(5):1021-7. Epub 2012 Mar 15 doi: 10.1016/j.fertnstert.2012.02.029. PMID: 22425200

Diagnosis

Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida.
Sun L, Tong K, Liu W, Tian Y, Liu D, Huang G, Li J
Reprod Biomed Online 2023 May;46(5):847-855. Epub 2023 Jan 16 doi: 10.1016/j.rbmo.2023.01.010. PMID: 36931917
Embryological Characteristics of Human Oocytes With Agar-Like Zona Pellucida and Its Clinical Treatment Strategy.
Yang D, Yang H, Yang B, Wang K, Zhu Q, Wang J, Ding F, Rao B, Xue R, Peng J, Wang Q, Cao Y, Zou W, Chen B, Zhang Z
Front Endocrinol (Lausanne) 2022;13:859361. Epub 2022 Jun 23 doi: 10.3389/fendo.2022.859361. PMID: 35813655Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Unexplained infertility: a review.
Pepperell RJ, McBain JC
Br J Obstet Gynaecol 1985 Jun;92(6):569-80. doi: 10.1111/j.1471-0528.1985.tb01394.x. PMID: 3890935

Therapy

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
The protective role of melatonin in porcine oocyte meiotic failure caused by the exposure to benzo(a)pyrene.
Miao Y, Zhou C, Bai Q, Cui Z, ShiYang X, Lu Y, Zhang M, Dai X, Xiong B
Hum Reprod 2018 Jan 1;33(1):116-127. doi: 10.1093/humrep/dex331. PMID: 29112712
Recurrent implantation failure: gamete and embryo factors.
Das M, Holzer HE
Fertil Steril 2012 May;97(5):1021-7. Epub 2012 Mar 15 doi: 10.1016/j.fertnstert.2012.02.029. PMID: 22425200
A prospective, randomized, double-blinded study of assisted hatching in women younger than 38 years undergoing in vitro fertilization.
Hagemann AR, Lanzendorf SE, Jungheim ES, Chang AS, Ratts VS, Odem RR
Fertil Steril 2010 Feb;93(2):586-91. Epub 2009 Mar 6 doi: 10.1016/j.fertnstert.2009.01.116. PMID: 19268926
Relationship between zona pellucida-induced acrosome reaction, sperm morphology, sperm-zona pellucida binding, and in vitro fertilization.
Bastiaan HS, Windt ML, Menkveld R, Kruger TF, Oehninger S, Franken DR
Fertil Steril 2003 Jan;79(1):49-55. doi: 10.1016/s0015-0282(02)04548-x. PMID: 12524063

Prognosis

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Markers of human sperm functions in the ICSI era.
Muratori M, Marchiani S, Tamburrino L, Forti G, Luconi M, Baldi E
Front Biosci (Landmark Ed) 2011 Jan 1;16(4):1344-63. doi: 10.2741/3793. PMID: 21196236
Failed fertilization: is it predictable?
Mahutte NG, Arici A
Curr Opin Obstet Gynecol 2003 Jun;15(3):211-8. doi: 10.1097/00001703-200306000-00001. PMID: 12858108

Clinical prediction guides

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
Bi-allelic variants in ASTL cause abnormal fertilization or oocyte maturation defects.
Zeng Y, Chen B, Sun Y, Yang A, Wu L, Li B, Mu J, Zhang Z, Wang W, Zhou Z, Dong J, Liu R, Luo Y, Sun X, Sang Q, Kuang Y, Wang L
Hum Mol Genet 2023 Jul 4;32(14):2326-2334. doi: 10.1093/hmg/ddad070. PMID: 37133443
Embryological Characteristics of Human Oocytes With Agar-Like Zona Pellucida and Its Clinical Treatment Strategy.
Yang D, Yang H, Yang B, Wang K, Zhu Q, Wang J, Ding F, Rao B, Xue R, Peng J, Wang Q, Cao Y, Zou W, Chen B, Zhang Z
Front Endocrinol (Lausanne) 2022;13:859361. Epub 2022 Jun 23 doi: 10.3389/fendo.2022.859361. PMID: 35813655Free PMC Article
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR
Hum Reprod Update 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. PMID: 33118031
Markers of human sperm functions in the ICSI era.
Muratori M, Marchiani S, Tamburrino L, Forti G, Luconi M, Baldi E
Front Biosci (Landmark Ed) 2011 Jan 1;16(4):1344-63. doi: 10.2741/3793. PMID: 21196236

Recent systematic reviews

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834

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