Novel loss-of-function SPAG17 homozygous variant segregated in a family with severe asthenozoospermia: upgrading gene-disease validity to strong
We identified a novel homozygous nonsense variant in <i>SPAG</i>17 in two siblings with severe asthenozoospermia, emphasizing its critical role in sperm motility and male fertility. The upgraded "Strong" gene-disease validity strengthens <i>SPAG</i>17's clinical utility for genetic diagnostics and counseling.
Authors
- L Wang
- J N Li
- J Zhang
- Qinghua Zhang (ORCID: https://orcid.org/0000-0003-4171-8572)
- Guangmei Xie
- Li Ding (ORCID: https://orcid.org/0000-0002-6067-4483)
- Jinli Li (ORCID: https://orcid.org/0009-0000-2177-5209)
- Ling Huang (ORCID: https://orcid.org/0000-0003-1146-6909)
- Jialing Wang (ORCID: https://orcid.org/0009-0005-4146-7795)
- Li Zhou
Institutions
- Gansu University of Traditional Chinese Medicine (CN)
- Gansu Provincial Maternal and Child Health Hospital (CN)
- Shanghai First Maternity and Infant Hospital (CN)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2026-02-19
- DOI
- https://doi.org/10.3389/fendo.2026.1754106
- Primary Topic
- Sperm and Testicular Function
- Type
- article
- Field-Weighted Citation Impact
- 0.00