ORIGINAL RESEARCH article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1595720
A Novel Loss-of-function SYCP2 Variant Causes Asthenoteratozoospermia in Infertile Males
Provisionally accepted
- Tianjin Central Hospital for Gynecology and Obstetrics, Tianjin, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Unexplained infertility affects 2-3% of reproductive-aged couples. Male factors contribute to approximately half of all infertility cases, and approximately 15% of these cases are predicted to have a genetic etiology. With the wide application of whole exome sequencing (WES), an increasing number of genetic variants associated with male infertility have been identified. In this study, we identified a novel heterozygous splice variant in SYCP2 (c.2600+5G>C) in a male infertility patient inherited from his phenotypically normal mother. SYCP2 encodes a protein critical for the synapsis of homologous chromosomes during meiosis I, and its disruption can impair spermatogenesis. A mini-gene splicing assay confirmed that this splicing variant impacted alternative splicing and that the stop codon appeared early, which was very likely to result in the loss of function of the protein and lead to the occurrence of male infertility. Our findings suggested that the c.2600+5G>C variation in SYCP2 might be the genetic etiology for male infertility in this pedigree, expanding the known genotype spectrum of male infertility and providing new etiological information for male infertility.
Keywords: male infertility, Whole exome sequence, SYCP2, Gene variation, mini-gene splicing assay
Received: 18 Mar 2025; Accepted: 28 Apr 2025.
Copyright: © 2025 Liu, Zhang, Zhao and Luo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Haining Luo, Tianjin Central Hospital for Gynecology and Obstetrics, Tianjin, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.