Vander Borght M, Wyns C. Fertility and infertility: Definition and epidemiology. Clin Biochem. 2018;62:2–10. https://doi.org/10.1016/j.clinbiochem.2018.03.012.

Article  PubMed  Google Scholar 

Huang HL, Lv C, Zhao YC, Li W, He XM, Li P, Sha AG, Tian X, Papasian CJ, Deng HW, et al. Mutant ZP1 in familial infertility. N Engl J Med. 2014;370:1220–6. https://doi.org/10.1056/NEJMoa1308851.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dai C, Chen Y, Hu L, Du J, Gong F, Dai J, Zhang S, Wang M, Chen J, Guo J, et al. ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report. Hum Reprod. 2019;34:2201–7. https://doi.org/10.1093/humrep/dez174.

Article  PubMed  Google Scholar 

Dai C, Hu L, Gong F, Tan Y, Cai S, Zhang S, Dai J, Lu C, Chen J, Chen Y, et al. ZP2 pathogenic variants cause in vitro fertilization failure and female infertility. Genet Med. 2019;21:431–40. https://doi.org/10.1038/s41436-018-0064-y.

Article  CAS  PubMed  Google Scholar 

Wang J, Yang X, Sun X, Ma L, Yin Y, He G, Zhang Y, Zhou J, Cai L, Liu J, Ma X. A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome. J Assist Reprod Genet. 2021;38:1459–68. https://doi.org/10.1007/s10815-021-02136-x.

Article  PubMed  PubMed Central  Google Scholar 

Sun Y, Zeng Y, Chen H, Zhou Z, Fu J, Sang Q, Wang L, Sun X, Chen B, Xu C. A novel homozygous variant in ZP2 causes abnormal zona pellucida formation and female infertility. J Assist Reprod Genet. 2021;38:1239–45. https://doi.org/10.1007/s10815-021-02107-2.

Article  PubMed  PubMed Central  Google Scholar 

Luo G, Zhu L, Liu Z, Yang X, Xi Q, Li Z, Duan J, Jin L, Zhang X. Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida. J Assist Reprod Genet. 2020;37:2853–60. https://doi.org/10.1007/s10815-020-01926-z.

Article  PubMed  PubMed Central  Google Scholar 

Zhou Z, Ni C, Wu L, Chen B, Xu Y, Zhang Z, Mu J, Li B, Yan Z, Fu J, et al. Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation. Hum Genet. 2019;138:327–37. https://doi.org/10.1007/s00439-019-01990-1.

Article  CAS  PubMed  Google Scholar 

Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility. Am J Hum Genet. 2017;101:459–65. https://doi.org/10.1016/j.ajhg.2017.08.001.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wei X, Li Y, Liu Q, Liu W, Yan X, Zhu X, Zhou D, Tian Y, Zhang F, Li N, Lu Z. Mutations in ZP4 are associated with abnormal zona pellucida and female infertility. J Clin Pathol. 2021. https://doi.org/10.1136/jclinpath-2020-207170.

Article  PubMed  Google Scholar 

Cao Q, Zhao C, Zhang X, Zhang H, Lu Q, Wang C, Hu Y, Ling X, Zhang J, Huo R. Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human. J Cell Mol Med. 2020;24:8557–66. https://doi.org/10.1111/jcmm.15482.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wassarman PM. Zona pellucida glycoproteins. J Biol Chem. 2008;283:24285–9. https://doi.org/10.1074/jbc.R800027200.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Matzuk MM, Burns KH, Viveiros MM, Eppig JJ. Intercellular communication in the mammalian ovary: oocytes carry the conversation. Science. 2002;296:2178–80. https://doi.org/10.1126/science.1071965.

Article  CAS  PubMed  Google Scholar 

Wassarman PM, Jovine L, Litscher ES. A profile of fertilization in mammals. Nat Cell Biol. 2001;3:E59-64. https://doi.org/10.1038/35055178.

Article  CAS  PubMed  Google Scholar 

Pang PC, Chiu PC, Lee CL, Chang LY, Panico M, Morris HR, Haslam SM, Khoo KH, Clark GF, Yeung WS, Dell A. Human sperm binding is mediated by the sialyl-Lewis(x) oligosaccharide on the zona pellucida. Science. 2011;333:1761–4. https://doi.org/10.1126/science.1207438.

Article  CAS  PubMed  Google Scholar 

Conner SJ, Lefievre L, Hughes DC, Barratt CL. Cracking the egg: increased complexity in the zona pellucida. Hum Reprod. 2005;20:1148–52. https://doi.org/10.1093/humrep/deh835.

Article  CAS  PubMed  Google Scholar 

Margalit M, Paz G, Yavetz H, Yogev L, Amit A, Hevlin-Schwartz T, Gupta SK, Kleiman SE. Genetic and physiological study of morphologically abnormal human zona pellucida. Eur J Obstet Gynecol Reprod Biol. 2012;165:70–6. https://doi.org/10.1016/j.ejogrb.2012.07.022.

Article  CAS  PubMed  Google Scholar 

Lefievre L, Conner SJ, Salpekar A, Olufowobi O, Ashton P, Pavlovic B, Lenton W, Afnan M, Brewis IA, Monk M, et al. Four zona pellucida glycoproteins are expressed in the human. Hum Reprod. 2004;19:1580–6. https://doi.org/10.1093/humrep/deh301.

Article  CAS  PubMed  Google Scholar 

Jovine L, Qi H, Williams Z, Litscher E, Wassarman PM. The ZP domain is a conserved module for polymerization of extracellular proteins. Nat Cell Biol. 2002;4:457–61. https://doi.org/10.1038/ncb802.

Article  CAS  PubMed  Google Scholar 

Jovine L, Darie CC, Litscher ES, Wassarman PM. Zona pellucida domain proteins. Annu Rev Biochem. 2005;74:83–114. https://doi.org/10.1146/annurev.biochem.74.082803.133039.

Article  CAS  PubMed  Google Scholar 

Li Z, Chen P, Xu J, Yu B, Li X, Wang DW, Wang DW. A PLN nonsense variant causes severe dilated cardiomyopathy in a novel autosomal recessive inheritance mode. Int J Cardiol. 2019;279:122–5. https://doi.org/10.1016/j.ijcard.2018.12.075.

Article  CAS  PubMed  Google Scholar 

Wang JJ, Yu B, Li Z. The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA. BMC Med Genet. 2019;20:91. https://doi.org/10.1186/s12881-019-0828-5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li Z, Zhou C, Tan L, Chen P, Cao Y, Li C, Li X, Yan J, Zeng H, Wang DW, Wang DW. Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection. Sci China Life Sci. 2017;60:57–65. https://doi.org/10.1007/s11427-016-0333-3.

Article  CAS  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. https://doi.org/10.1038/gim.2015.30.

Article  PubMed  PubMed Central  Google Scholar 

Jia W, Xi Q, Zhu L, Luo Y, Li Z, Hou M, Zhang D, Yang X, Hu J, Jin L, Zhang X. Novel mutations in ZP2 and ZP3 cause female infertility in three patients. J Assist Reprod Genet. 2022;39:1205–15. https://doi.org/10.1007/s10815-022-02466-4.

Article  PubMed  PubMed Central  Google Scholar 

Indahwati L, Wati LR, Sutrisno S, Noorhamdani N. Effect of human ZP3 monoclonal antibody on expression of GDF-9 and number of theca cells in ovary of mice (Mus musculus). J Taibah Univ Med Sci. 2018;13:219–24. https://doi.org/10.1016/j.jtumed.2018.03.003.

Article  PubMed  PubMed Central  Google Scholar 

Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM. ClinGen Sequence Variant Interpretation Working G: Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018;39:1517–24. https://doi.org/10.1002/humu.23626.