U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Show allHide all

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

The effect of laser-assisted hatching on vitrified/warmed blastocysts: the ALADDIN randomized controlled trial.
Alteri A, Reschini M, Guarneri C, Bandini V, Bertapelle G, Pinna M, Rabellotti E, Ferrari S, Papaleo E, Paffoni A, Viganò P, Somigliana E
Fertil Steril 2024 Jul;122(1):106-113. Epub 2024 Feb 9 doi: 10.1016/j.fertnstert.2024.02.010. PMID: 38342371
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
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
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
Semen analysis and sperm function assays: what do they mean?
Sigman M, Baazeem A, Zini A
Semin Reprod Med 2009 Mar;27(2):115-23. Epub 2009 Feb 26 doi: 10.1055/s-0029-1202300. PMID: 19247913
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

The effect of laser-assisted hatching on vitrified/warmed blastocysts: the ALADDIN randomized controlled trial.
Alteri A, Reschini M, Guarneri C, Bandini V, Bertapelle G, Pinna M, Rabellotti E, Ferrari S, Papaleo E, Paffoni A, Viganò P, Somigliana E
Fertil Steril 2024 Jul;122(1):106-113. Epub 2024 Feb 9 doi: 10.1016/j.fertnstert.2024.02.010. PMID: 38342371
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
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
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
Poor fertilization may be related to oocyte or zona pellucida recognition defects specific to certain hyperstimulation regimens and limited to some males but not others: a case report.
Check JH, Long R, Allen J, Hoover L
Fertil Steril 1995 Jun;63(6):1341-3. doi: 10.1016/s0015-0282(16)57623-7. PMID: 7750612

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • 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

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...