Skip to main content

CASE REPORT article

Front. Reprod. Health

Sec. Andrology

Volume 7 - 2025 | doi: 10.3389/frph.2025.1554027

A homozygous mutation in the SPAG17 gene in a case with oligoasthenoteratozoospermic infertility

Provisionally accepted
  • 1 Central Drug Research Institute (CSIR), Lucknow, India
  • 2 Milan: The Fertility Clinic, New Delhi, India, New Delhi, India

The final, formatted version of the article will be published soon.

    Background: Defects in sperm size and form, known as teratozoospermia, can adversely impair sperm motility and its ability to fertilize an oocyte. Teratozoospermia has been most often linked with genetic abnormalities with close to 100 genes known.The primary objective of this study is to investigate the genetic basis of oligoasthenoteratozoospermic infertility in an infertile man.We performed the whole exome sequencing, followed by in silico filtration of observed genetic variations. Filtered rare variants were assessed for their pathogenic nature on the basis of scores assigned by various in-silico tools and their biological relevance to sperm structural development. The potentially pathogenic mutation was validated by Sanger sequencing.Results: Our study identified a homozygous substitution, c.4511A>G, in the SPAG17 gene as a potential pathogenic mutation associated with oligoasthenoteratozoospermic infertility in the case under investigation. The mutation resulted in the substitution of asparagine with serine at the 1504 th amino acid position in a protein of 2223 amino acids. This mutation shows a minor allele frequency of 0.0004671 in the gnomAD database. ACMG classification suggested this mutation to be likely pathogenic.Our study identified a homozygous likely pathogenic mutation (c.4511A>G, Asn1504Ser) in the SPAG17 gene that explains oligoasthenoteratozoospermic infertility in the present case.

    Keywords: Sperm morphology, SPAG17, genetic mutation, male infertility, Oligoasthenoteratozoospermia (OAT)

    Received: 31 Dec 2024; Accepted: 31 Mar 2025.

    Copyright: © 2025 Sethi, Andrabi, Mitra and Rajender. 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: Singh Rajender, Central Drug Research Institute (CSIR), Lucknow, India

    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.

    Research integrity at Frontiers

    Man ultramarathon runner in the mountains he trains at sunset

    95% of researchers rate our articles as excellent or good

    Learn more about the work of our research integrity team to safeguard the quality of each article we publish.


    Find out more