A rare deleterious missense mutation in the <i>AXIN2</i> gene in Chinese women with polycystic ovary syndrome
In this study, we identified a rare deleterious missense <i>AXIN2</i> mutation [p.R714W (c.2140C > T)] in Chinese women with PCOS, and this mutant is probably pathogenic. This study may provide a new perspective on revealing the genetic variation of PCOS.
Authors
- Jun Tan (ORCID: https://orcid.org/0000-0001-9080-7534)
- Faying Liu (ORCID: https://orcid.org/0000-0002-9922-2767)
- Jingwen Fu
- Xianxian Liu
- Ouping Huang (ORCID: https://orcid.org/0000-0002-1814-0197)
- Ying Zhang (ORCID: https://orcid.org/0009-0009-9153-7594)
- Yu Chen (ORCID: https://orcid.org/0000-0002-9661-3914)
- Yang Zou (ORCID: https://orcid.org/0000-0002-7335-8850)
Institutions
- South China Agricultural University (CN)
- Jiangxi Maternal and Child Health Hospital (CN)
Publication Details
- Journal
- Gynecological Endocrinology
- Published
- 2025-02-06
- DOI
- https://doi.org/10.1080/09513590.2025.2463545
- Primary Topic
- Ovarian function and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00