ArticleJournal of assisted reproduction and genetics2020
Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Molecular interplay between sperm and oocyte: a narrative review.Human reproduction update · 2026Review
- Dynamic Remodeling of the Zona Pellucida: Implications for Oocyte Competence and Assisted Reproduction.International journal of molecular sciences · 2025Review
- A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome.Journal of ovarian research · 2025Article
- Article
- Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review.Reproductive biology and endocrinology : RB&E · 2022Review
- A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females.Clinical genetics · 2022Article
- Novel mutations in ZP2 and ZP3 cause female infertility in three patients.Journal of assisted reproduction and genetics · 2022Article
- Gene Spectrum and Clinical Traits of Nine Patients With Oocyte Maturation Arrest.Frontiers in genetics · 2022Article
- Empty Zona Pellucida Only Case: A Critical Review of the Literature.International journal of environmental research and public health · 2021Review
- A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome.Journal of assisted reproduction and genetics · 2021Article
- Genetic factors as potential molecular markers of human oocyte and embryo quality.Journal of assisted reproduction and genetics · 2021Review
- New Insights into the Mammalian Egg Zona Pellucida.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
purposeEmpty follicle syndrome (EFS) refers to the inability to obtain mature oocytes after appropriate ovarian stimulation during the process of in vitro fertilization (IVF). However, the specific cause and mechanism of action underlying EFS remain to be further explored. Herein we aimed to investigate the clinical and genetic characteristics of EFS.
methodsAfter data were collected in an infertile family, we performed whole-exome sequencing (WES) on the patient and confirmed the pathogenic mutations through Sanger sequencing. Western immunoblotting, immunofluorescence staining, and minigene assay were further used to investigate the negative effects of these mutations.
resultsAbsence of oocytes was observed over 2 cycles of IVF in the patient, and we evaluated the novel compound heterozygous mutations c.2T>A (p. M1K) and c.1112+1G>T of the zona pellucida glycoprotein 1 gene (ZP1, MIM# 195000) by WES. For the family under study, EFS was classified as an autosomal recessive inheritance pattern. The results of western blotting and immunofluorescence staining analyses confirmed that the missense mutation of c.2T>A [p. M1K] resulted in almost missing protein production. Additionally, using a minigene assay, we demonstrated the deleterious effect on the ZP1 gene of the splice site mutation c.1112+1G>T, which caused truncation of ZP1 protein.
conclusionsThe compound heterozygous mutations of ZP1 gene identified in this study by genetic and functional experiments constituted a novel genetic cause of EFS, and further study will expand its use in the clinical and molecular diagnoses of EFS.
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