Research Progress of ZP1 Gene Mutation in Empty Follicle Syndrome

doi:10.12280/gjszjk.20230443

Abstract

Abstract:

The pathogenesis of empty follicle syndrome has not been clarified. More and more research has focused on the genetic factors of empty follicle syndrome, especially the genes involved in regulating oocyte development. Zona pellucida glycoprotein 1 (ZP1) is a key component of the structural integrity of the zona pellucida matrix. Structural and functional defects of zona pellucida due to the mutations of ZP1 gene often lead to the impaired oocyte maturation and the increased fragility, which may lead to the repeated oocyte retrieval failures. Various mutations of ZP1 gene that cause empty follicle syndrome phenotypes have been identified. In this paper, we reviewed the action and mechanism of ZP1 gene mutations at different sites in causing the empty follicle syndrome phenotype.

Key words: Ovarian follicle, Zona pellucida glycoproteins, Zona pellucida, Genes, Mutation, Oocyte retrieval, Empty follicle syndrome

CAO Yuan-yuan, JIA Zan-hui, ZHANG Chun-miao. Research Progress of ZP1 Gene Mutation in Empty Follicle Syndrome[J]. Journal of International Reproductive Health/Family Planning, 2024, 43(2): 127-131.

Figures/Tables 3

References 31

[1]	Revelli A, Carosso A, Grassi G, et al. Empty follicle syndrome revisited: definition, incidence, aetiology, early diagnosis and treatment[J]. Reprod Biomed Online, 2017, 35(2):132-138. doi: 10.1016/j.rbmo.2017.04.012. pmid: 28596003
[2]	Choi J, Smitz J. Luteinizing hormone and human chorionic gonadotropin: origins of difference[J]. Mol Cell Endocrinol, 2014, 383(1/2):203-213. doi: 10.1016/j.mce.2013.12.009.
[3]	Coulam CB, Bustillo M, Schulman JD. Empty follicle syndrome[J]. Fertil Steril, 1986, 46(6):1153-1155. doi: 10.1016/s0015-0282(16)49898-5. pmid: 3781029
[4]	Pujalte M, Camo M, Celton N, et al. A ZP1 gene mutation in a patient with empty follicle syndrome: A case report and literature review[J]. Eur J Obstet Gynecol Reprod Biol, 2023, 280:193-197. doi: 10.1016/j.ejogrb.2022.12.011.
[5]	Stevenson TL, Lashen H. Empty follicle syndrome: the reality of a controversial syndrome, a systematic review[J]. Fertil Steril, 2008, 90(3):691-698. doi: 10.1016/j.fertnstert.2007.07.1312. pmid: 18023430
[6]	Younis JS. The genuine empty follicle syndrome: is the king naked?[J]. Fertil Steril, 2012, 98(3):e20-e21. doi: 10.1016/j.fertnstert.2012.07.1098.
[7]	Vujisic S, Stipoljev F, Bauman R, et al. Pericentric inversion of chromosome 2 in a patient with the empty follicle syndrome: case report[J]. Hum Reprod, 2005, 20(9):2552-2555. doi: 10.1093/humrep/dei083. pmid: 15905290
[8]	Zhang Z, Wu L, Diao F, et al. Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome[J]. J Assist Reprod Genet, 2020, 37(11):2861-2868. doi: 10.1007/s10815-020-01931-2.
[9]	Chen T, Bian Y, Liu X, et al. A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility[J]. Am J Hum Genet, 2017, 101(3):459-465. doi: 10.1016/j.ajhg.2017.08.001.
[10]	Dai C, Chen Y, Hu L, et al. ZP 1 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[J]. Hum Reprod, 2019, 34(11):2201-2207. doi: 10.1093/humrep/dez174.
[11]	Sun L, Fang X, Chen Z, et al. Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sisters[J]. Hum Mutat, 2019, 40(11):2001-2006. doi: 10.1002/humu.23864.
[12]	Yuan P, Li R, Li D, et al. Novel mutation in the ZP1 gene and clinical implications[J]. J Assist Reprod Genet, 2019, 36(4):741-747. doi: 10.1007/s10815-019-01404-1.
[13]	Zhou Z, Ni C, Wu L, et al. Novel mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation[J]. Hum Genet, 2019, 138(4):327-337. doi: 10.1007/s00439-019-01990-1. pmid: 30810869
[14]	Liu M, Shen Y, Zhang X, et al. Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome[J]. J Assist Reprod Genet, 2020, 37(9):2151-2157. doi: 10.1007/s10815-020-01855-x.
[15]	Luo G, Zhu L, Liu Z, et al. Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida[J]. J Assist Reprod Genet, 2020, 37(11):2853-2860. doi: 10.1007/s10815-020-01926-z.
[16]	Xu Q, Zhu X, Maqsood M, et al. A novel homozygous nonsense ZP1 variant causes human female infertility associated with empty follicle syndrome (EFS)[J]. Mol Genet Genomic Med, 2020, 8(7):e1269. doi: 10.1002/mgg3.1269.
[17]	Wang J, Yang X, Sun X, et al. A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome[J]. J Assist Reprod Genet, 2021, 38(6):1459-1468. doi: 10.1007/s10815-021-02136-x.
[18]	Wu L, Li M, Yin M, et al. Novel mutations in ZP1: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women[J]. Clin Genet, 2021, 99(4):583-587. doi: 10.1111/cge.13921.
[19]	Litscher ES, Wassarman PM. Zona pellucida genes and proteins and human fertility[J]. Trends Dev Biol, 2020,13:21-33.
[20]	Litscher ES, Wassarman PM. Zona Pellucida Proteins, Fibrils, and Matrix[J]. Annu Rev Biochem, 2020,89:695-715. doi: 10.1146/annurev-biochem-011520-105310.
[21]	Moros-Nicolás C, Chevret P, Jiménez-Movilla M, et al. New Insights into the Mammalian Egg Zona Pellucida[J]. Int J Mol Sci, 2021, 22(6):3276. doi: 10.3390/ijms22063276.
[22]	Gupta SK. The Human Egg′s Zona Pellucida[M]. Current Topics in Developmental Biology: Vol. 130. Elsevier,2018: 379-411.
[23]	姚叶洁, 孙贇. 人ZP基因突变导致卵子异常和不孕的研究进展[J]. 中华生殖与避孕杂志, 2022, 42(9):967-973. doi: 10.3760/cma.j.cn101441-20210628-00288.
[24]	Wassarman PM, Litscher ES. Zona Pellucida Genes and Proteins: Essential Players in Mammalian Oogenesis and Fertility[J]. Genes(Basel), 2021, 12(8):1266. doi: 10.3390/genes12081266.
[25]	Yang P, Luan X, Peng Y, et al. Novel zona pellucida gene variants identified in patients with oocyte anomalies[J]. Fertil Steril, 2017, 107(6):1364-1369. doi: 10.1016/j.fertnstert.2017.03.029. pmid: 28577617
[26]	Sun L, Tong K, Liu W, et al. Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida[J]. Reprod Biomed Online, 2023, 46(5):847-855. doi: 10.1016/j.rbmo.2023.01.010.
[27]	Zou T, Xi Q, Liu Z, et al. A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome[J]. Reprod Sci, 2022, 29(12):3516-3520. doi: 10.1007/s43032-022-01024-8.
[28]	Huang HL, Lv C, Zhao YC, et al. Mutant ZP1 in familial infertility[J]. N Engl J Med, 2014, 370(13):1220-1226. doi: 10.1056/NEJMoa 1308851.
[29]	Trocka D, Satie AP, Ravel C. The human zona pellucida: New genetic findings[J]. Med Sci(Paris), 2023, 39(6/7):522-529. doi: 10.1051/medsci/2023081.
[30]	Zhou J, Wang M, Yang Q, et al. Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review[J]. Reprod Biol Endocrinol, 2022, 20(1):166. doi: 10.1186/s12958-022-01046-6.
[31]	Chu K, He Y, Wang L, et al. Novel ZP1 pathogenic variants identified in an infertile patient and a successful live birth following ICSI treatment[J]. Clin Genet, 2020, 97(5):787-788. doi: 10.1111/cge.13693. pmid: 31909477