{
  "abstract": "Introduction\n\nUnexplained male infertility (UMI) refers to a situation where no underlying cause of male infertility is defined during investigations of the couple.Methods\n\nWhole exome sequencing (WES) was performed to identify variants associated with UMI in a consanguineous Iranian family.Results\n\nWES 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\n\nOur 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.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran.",
    "Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.",
    "Department of Embryology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.",
    "Department of Immunology, Zanjan University of Medical Sciences, Zanjan, Iran."
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 8,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Seyedeh Zahra Mousavi",
      "orcid": "0000-0001-8298-2770"
    },
    {
      "affs": [
        1
      ],
      "name": "Pegah Kouhi"
    },
    {
      "affs": [
        2
      ],
      "name": "Vahid Esmaeili"
    },
    {
      "affs": [
        1
      ],
      "name": "Zeynab Rokhsattalab"
    },
    {
      "affs": [
        3
      ],
      "name": "Abdolreza Esmaeilzadeh"
    },
    {
      "affs": [
        1
      ],
      "name": "Navid Almadani"
    },
    {
      "affs": [
        0
      ],
      "name": "Bahram Mohammad Soltani",
      "orcid": "0000-0003-2468-901X"
    },
    {
      "affs": [
        1
      ],
      "name": "Mehdi Totonchi",
      "orcid": "0000-0002-7285-3155"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/f6yg00e8wshmg.bib",
  "cited_by": 0,
  "doi": "10.34172/bi.31216",
  "fulltext_url": "https://europepmc.org/articles/PMC13677337",
  "id": "f6yg00e8wshmg",
  "issns": [
    "2228-5652",
    "2228-5660"
  ],
  "landing_url": "https://europepmc.org/article/MED/42898155",
  "language": "eng",
  "licence": "CC-BY-NC",
  "licence_label": "CC BY-NC",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2743|Sperm and Testicular Function"
    ]
  ],
  "openalex": "W7216421110",
  "pdf_url": "https://europepmc.org/articles/PMC13677337?pdf=render",
  "pmcid": "PMC13677337",
  "pmid": "42898155",
  "published": "2026-08-23",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/f6yg00e8wshmg.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:19:41Z",
      "native_id": "MED:42898155",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42898155"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2743|Sperm and Testicular Function",
      "subfield": "reproductive-child"
    }
  ],
  "title": "Identifying a CATSPERB Variants in unexplained male infertility through familial exome sequencing.",
  "title_text": "Identifying a CATSPERB Variants in unexplained male infertility through familial exome sequencing.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:19:41Z",
  "url": "https://research.draconitic.com/paper/f6yg00e8wshmg",
  "venue": "BioImpacts : BI",
  "versions": []
}