Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation
A homozygous splice site mutation results in a deletion of 4 bp from exon 15 of PMFBP1, thereby affecting the expression of the PMFBP1 protein. The absence of PMFBP1 protein expression can lead to acephalic spermatozoa syndrome. This finding elucidates the underlying cause of acephalic spermatozoa syndrome associated with this specific mutation (NM_031293.2, c.2089-1G > T) in PMFBP1.
Authors
- Teng Wang (ORCID: https://orcid.org/0000-0002-6713-5589)
- Juan Zhang (ORCID: https://orcid.org/0000-0003-4673-3448)
- Kangle Yi
- Lingyan Liao
- Huaqiang Xia
- Wuyuan Mao
Institutions
- Central South University (CN)
- Zhuzhou Central Hospital (CN)
Publication Details
- Journal
- Basic and Clinical Andrology
- Published
- 2024-12-12
- DOI
- https://doi.org/10.1186/s12610-024-00240-3
- Citations
- 1
- Primary Topic
- Reproductive Health and Technologies
- Type
- article
- Field-Weighted Citation Impact
- 0.54
Funders
- Natural Science Foundation of Hainan Province