Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing.

ABSTRACT: Infertility affects approximately 15% of couples globally, with male factors contributing to nearly 50% of cases. However, the genetic basis of male infertility, particularly idiopathic forms, remains poorly understood. In this study, we performed whole-genome sequencing (WGS) on eight normozoospermic men and nine men with oligozoospermia, asthenozoospermia, or both, followed by Sanger sequencing for validation. Comparative analysis revealed a higher burden of genomic variants in the sperm dysfunction infertility group (SDIG) than in the normozoospermic group (NG). Several nonsynonymous missense variants were exclusively identified in SDIG, including DNAJB13 (p.Ile159Asn), MNS1 (p.Asp217Asn), DNAH6 (p.Ser2210Leu), HYDIN (p.Gly901Ala, p.Arg568Trp), DNAH7 (p.Arg1486His, p.Gly171Arg, p.Ser236

SUBMITTER: Khan MR 

PROVIDER: S-EPMC12537905 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature