Skip to content
DraconiticResearch
Search Sources API
203,203 studies31 sourcesUpdated 27 min ago
Peer-reviewedCC BY-NCBioImpacts : BI

Identifying a CATSPERB Variants in unexplained male infertility through familial exome sequencing.

  • Seyedeh Zahra Mousavi1
  • Pegah Kouhi2
  • Vahid Esmaeili3
  • Zeynab Rokhsattalab2
  • Abdolreza Esmaeilzadeh4
  • Navid Almadani2
  • Bahram Mohammad Soltani1
  • Mehdi Totonchi2
4 affiliations
  1. 1Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran.
  2. 2Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
  3. 3Department of Embryology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
  4. 4Department of Immunology, Zanjan University of Medical Sciences, Zanjan, Iran.
Read full textPDFDOICite

Abstract

Introduction

Unexplained male infertility (UMI) refers to a situation where no underlying cause of male infertility is defined during investigations of the couple.Methods

Whole exome sequencing (WES) was performed to identify variants associated with UMI in a consanguineous Iranian family.Results

WES revealed a rare homozygous missense variant (chr14:g.92088086C>T; NM_024764.4:c.2126G>A; p.Arg709Gln) located in the extracellular region of CATSPERB in three affected siblings. This mutation resulted in the substitution of arginine 709 (R) with glutamine (Q) and co-segregated with the phenotype in other available family members. The kinematic parameters of sperm motility indicated abnormal hyperactivated movement. In-silico protein stability analysis suggests that the Arg709Gln (R709Q) alteration reduces the stability of the CATSPERB protein, potentially compromising causing defects in the overall stability of the CatSper complex.Conclusion

Our findings provide initial evidence supporting the involvement of CATSPERB variants in UMI. This is the first reported genetic variant within the CATSPERB gene associated with UMI.

Related

  1. A Tailored Sequencing Approach for Identifying SARS-CoV-2 Variants in Challenging Samples from Mink
    Aleksandra Giza, Ewelina Iwan, Arkadiusz Bomba +6
    International Journal of Molecular SciencesPeer-reviewedCC BY 4.0Infectious diseaseCrossref
  2. Case Report: Unexplained field infertility in an AI purebred Piedmontese bull with normal conventional semen parameters.
    Irene Viola, Veronica Spalenza, Andrea Albera +3
    Frontiers in veterinary sciencePeer-reviewedCC BYFull textObstetrics, gynaecology & paediatricsEurope PMC
  3. Inherited chromosomally integrated HHV-6A and its potential role in unexplained infertility: the first clinical case from India—a case report
    Vani Angra, Arnab Ghosh, Pallavi Sharma +6
    Journal of Medical Case ReportsPeer-reviewedCC BY 4.0Full textEpidemiology & public healthPMC
  4. Cross-Partner Associations of Female Reproductive Hormones With Semen Parameters in Unexplained Infertility: An Exploratory Secondary Analysis
    Ikran Mohamud, Mena Abdalla
    CureusPeer-reviewedCC BYFull textObstetrics, gynaecology & paediatricsEurope PMCPMC
  5. Customized MUC1 Sequencing Enables Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease and Unexplained CKD
    José María García-Aznar, María Lara Besada-Cerecedo, Nerea López Aguirre +19
    Kidney international reportsPeer-reviewedCC BYFull textGeneral medicineEurope PMC

Cite

BibTeXRIS
BibTeX
@article{mousavi2026identifying,
  title = {{Identifying a CATSPERB Variants in unexplained male infertility through familial exome sequencing.}},
  author = {Seyedeh Zahra Mousavi and Pegah Kouhi and Vahid Esmaeili and Zeynab Rokhsattalab and Abdolreza Esmaeilzadeh and Navid Almadani and Bahram Mohammad Soltani and Mehdi Totonchi},
  journal = {BioImpacts : BI},
  year = {2026},
  month = aug,
  doi = {10.34172/bi.31216},
  url = {https://europepmc.org/article/MED/42898155},
  note = {CC BY-NC},
}
RIS
TY  - JOUR
TI  - Identifying a CATSPERB Variants in unexplained male infertility through familial exome sequencing.
AU  - Seyedeh Zahra Mousavi
AU  - Pegah Kouhi
AU  - Vahid Esmaeili
AU  - Zeynab Rokhsattalab
AU  - Abdolreza Esmaeilzadeh
AU  - Navid Almadani
AU  - Bahram Mohammad Soltani
AU  - Mehdi Totonchi
PY  - 2026
DA  - 2026/08/23
JO  - BioImpacts : BI
DO  - 10.34172/bi.31216
UR  - https://europepmc.org/article/MED/42898155
AB  - Introduction  Unexplained male infertility (UMI) refers to a situation where no underlying cause of male infertility is defined during investigations of the couple.Methods  Whole exome sequencing (WES) was performed to identify variants associated with UMI in a consanguineous Iranian family.Results  WES revealed a rare homozygous missense variant (chr14:g.92088086C>T; NM_024764.4:c.2126G>A; p.Arg709Gln) located in the extracellular region of CATSPERB in three affected siblings. This mutation resulted in the substitution of arginine 709 (R) with glutamine (Q) and co-segregated with the phenotype in other available family members. The kinematic parameters of sperm motility indicated abnormal hyperactivated movement. In-silico protein stability analysis suggests that the Arg709Gln (R709Q) alteration reduces the stability of the CATSPERB protein, potentially compromising causing defects in the overall stability of the CatSper complex.Conclusion  Our findings provide initial evidence supporting the involvement of CATSPERB variants in UMI. This is the first reported genetic variant within the CATSPERB gene associated with UMI.
SN  - 2228-5652
SN  - 2228-5660
ER  -