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Absent zona pellucida

MedGen UID:
1054494
•Concept ID:
CN377137
•
Finding
HPO: HP:6000328

Definition

Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent zona pellucida

Conditions with this feature

Female infertility due to zona pellucida defect
MedGen UID:
862728
•Concept ID:
C4014291
•
Disease or Syndrome
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.
See: Condition Record
Female infertility due to zona pellucida defect

Professional guidelines

PubMed

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW
J Assoc Res Otolaryngol 2006 Jun;7(2):173-81. Epub 2006 Apr 25 doi: 10.1007/s10162-006-0033-z. PMID: 16718611Free PMC Article

Recent clinical studies

Etiology

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
Novel zona pellucida gene variants identified in patients with oocyte anomalies.
Yang P, Luan X, Peng Y, Chen T, Su S, Zhang C, Wang Z, Cheng L, Zhang X, Wang Y, Chen ZJ, Zhao H
Fertil Steril 2017 Jun;107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. PMID: 28577617
Dynamic changes in microtubular cytoskeleton of human postmature oocytes revert after ooplasm transfer.
Goud AP, Goud PT, Van Oostveldt P, Diamond MP, Dhont M
Fertil Steril 2004 Feb;81(2):323-31. doi: 10.1016/j.fertnstert.2003.06.033. PMID: 14967368
Viewing AIDS from a glycobiological perspective: potential linkages to the human fetoembryonic defence system hypothesis.
Clark GF, Dell A, Morris HR, Patankar M, Oehninger S, Seppälä M
Mol Hum Reprod 1997 Jan;3(1):5-13. doi: 10.1093/molehr/3.1.5. PMID: 9239703
The contribution of a hidden male factor to unexplained infertility.
Mackenna A, Barratt CL, Kessopoulou E, Cooke I
Fertil Steril 1993 Feb;59(2):405-11. doi: 10.1016/s0015-0282(16)55685-4. PMID: 8425639

Diagnosis

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
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome.
Zhang Z, Guo Q, Jia L, Zhou C, He S, Fang C, Zhang M, Sun P, Zeng Z, Wang M, Wang D, Liang X
Hum Mutat 2022 Feb;43(2):180-188. Epub 2021 Dec 19 doi: 10.1002/humu.24297. PMID: 34816529
A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.
Wang J, Yang X, Sun X, Ma L, Yin Y, He G, Zhang Y, Zhou J, Cai L, Liu J, Ma X
J Assist Reprod Genet 2021 Jun;38(6):1459-1468. Epub 2021 Mar 5 doi: 10.1007/s10815-021-02136-x. PMID: 33665726Free PMC Article
Novel mutation in the ZP1 gene and clinical implications.
Yuan P, Li R, Li D, Zheng L, Ou S, Zhao H, Zhang Q, Wang W
J Assist Reprod Genet 2019 Apr;36(4):741-747. Epub 2019 Feb 18 doi: 10.1007/s10815-019-01404-1. PMID: 30778819Free PMC Article
Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family.
Ramsebner R, Koenighofer M, Parzefall T, Lucas T, Schoefer C, Frei K
Int J Pediatr Otorhinolaryngol 2014 May;78(5):837-42. Epub 2014 Feb 26 doi: 10.1016/j.ijporl.2014.02.025. PMID: 24636747

Therapy

Successful fertilization and establishment of pregnancies after intracytoplasmic sperm injection in patients with globozoospermia.
Liu J, Nagy Z, Joris H, Tournaye H, Devroey P, Van Steirteghem A
Hum Reprod 1995 Mar;10(3):626-9. doi: 10.1093/oxfordjournals.humrep.a136000. PMID: 7782443
Use of endotoxin as a positive (toxic) control in the mouse embryo assay.
Dubin NH, Bornstein DR, Gong Y
J Assist Reprod Genet 1995 Feb;12(2):147-52. doi: 10.1007/BF02211385. PMID: 7670274

Prognosis

A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.
Wang J, Yang X, Sun X, Ma L, Yin Y, He G, Zhang Y, Zhou J, Cai L, Liu J, Ma X
J Assist Reprod Genet 2021 Jun;38(6):1459-1468. Epub 2021 Mar 5 doi: 10.1007/s10815-021-02136-x. PMID: 33665726Free PMC Article
Molecular basis of egg coat cross-linking sheds light on ZP1-associated female infertility.
Nishimura K, Dioguardi E, Nishio S, Villa A, Han L, Matsuda T, Jovine L
Nat Commun 2019 Jul 12;10(1):3086. doi: 10.1038/s41467-019-10931-5. PMID: 31300655Free PMC Article
Novel mutation in the ZP1 gene and clinical implications.
Yuan P, Li R, Li D, Zheng L, Ou S, Zhao H, Zhang Q, Wang W
J Assist Reprod Genet 2019 Apr;36(4):741-747. Epub 2019 Feb 18 doi: 10.1007/s10815-019-01404-1. PMID: 30778819Free PMC Article
Novel zona pellucida gene variants identified in patients with oocyte anomalies.
Yang P, Luan X, Peng Y, Chen T, Su S, Zhang C, Wang Z, Cheng L, Zhang X, Wang Y, Chen ZJ, Zhao H
Fertil Steril 2017 Jun;107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. PMID: 28577617
Efficiency of polarized microscopy as a predictive tool for human oocyte quality.
Heindryckx B, De Gheselle S, Lierman S, Gerris J, De Sutter P
Hum Reprod 2011 Mar;26(3):535-44. Epub 2011 Jan 12 doi: 10.1093/humrep/deq376. PMID: 21233107

Clinical prediction guides

Lineage segregation in human pre-implantation embryos is specified by YAP1 and TEAD1.
Regin M, Essahib W, Demtschenko A, Dewandre D, David L, Gerri C, Niakan KK, Verheyen G, Tournaye H, Sterckx J, Sermon K, Van De Velde H
Hum Reprod 2023 Aug 1;38(8):1484-1498. doi: 10.1093/humrep/dead107. PMID: 37295962
A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.
Wang J, Yang X, Sun X, Ma L, Yin Y, He G, Zhang Y, Zhou J, Cai L, Liu J, Ma X
J Assist Reprod Genet 2021 Jun;38(6):1459-1468. Epub 2021 Mar 5 doi: 10.1007/s10815-021-02136-x. PMID: 33665726Free PMC Article
Molecular basis of egg coat cross-linking sheds light on ZP1-associated female infertility.
Nishimura K, Dioguardi E, Nishio S, Villa A, Han L, Matsuda T, Jovine L
Nat Commun 2019 Jul 12;10(1):3086. doi: 10.1038/s41467-019-10931-5. PMID: 31300655Free PMC Article
Novel mutation in the ZP1 gene and clinical implications.
Yuan P, Li R, Li D, Zheng L, Ou S, Zhao H, Zhang Q, Wang W
J Assist Reprod Genet 2019 Apr;36(4):741-747. Epub 2019 Feb 18 doi: 10.1007/s10815-019-01404-1. PMID: 30778819Free PMC Article
Novel zona pellucida gene variants identified in patients with oocyte anomalies.
Yang P, Luan X, Peng Y, Chen T, Su S, Zhang C, Wang Z, Cheng L, Zhang X, Wang Y, Chen ZJ, Zhao H
Fertil Steril 2017 Jun;107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. PMID: 28577617

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