A compound heterozygous mutation in ZP1 and two novel heterozygous cis mutations in ZP3 causes infertility in women presenting with empty follicle syndrome
Our study has enriched the mutational spectrum of the ZP gene by identifying mutations in the causative genes ZP1 and ZP3 associated with EFS. In vitro experiments exploring the effects of mutations on ZP protein expression and function confirmed that ZP is an important genetic cause of EFS, thus broadening our understanding of the genetics of female infertility. We emphasize the importance of genetic analysis in the diagnosis and prognosis of "genuine" EFS (GEFS) and recommend that EFS patients strive for a successful pregnancy through an oocyte donation program.
Authors
- Jingjie Yang (ORCID: https://orcid.org/0009-0007-5055-5900)
- Panpan Lu (ORCID: https://orcid.org/0000-0002-8706-567X)
- Guanghui Yuan (ORCID: https://orcid.org/0009-0004-0964-2381)
- Huaiqian Dou (ORCID: https://orcid.org/0000-0002-4245-8998)
- Yingxue Liu (ORCID: https://orcid.org/0009-0003-2738-0234)
- Xiaoxiao Wang (ORCID: https://orcid.org/0000-0002-3712-9823)
- Xiaowen Liu (ORCID: https://orcid.org/0000-0003-4139-1127)
- Duan Li (ORCID: https://orcid.org/0000-0001-9393-167X)
- Lei Han (ORCID: https://orcid.org/0000-0002-2411-880X)
- Cuifang Hao (ORCID: https://orcid.org/0000-0002-1601-2060)
- Shuyuan Chen (ORCID: https://orcid.org/0009-0002-7751-9073)
Institutions
- Qingdao University (CN)
- China Animal Health and Epidemiology Center (CN)
Publication Details
- Journal
- Journal of Ovarian Research
- Published
- 2025-04-26
- DOI
- https://doi.org/10.1186/s13048-025-01674-7
- Citations
- 3
- Primary Topic
- Reproductive Biology and Fertility
- Type
- article
- Field-Weighted Citation Impact
- 5.64
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Shandong Province