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A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly

Tanveer Abbas1, Huan Zhang1, Hao Yin1

  • 1Division of Reproduction and Genetics, First Affiliated Hospital of University of Science and Technology of China (USTC), Hefei National Research Center for Physical Sciences at the Microscale, School of Basic Medical Sciences, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, Division of Life Sciences and Medicine, University of Science and Technology of China, 443 Huangshan Road, Hefei, Anhui Province 230027, China.

Human Molecular Genetics
|July 17, 2025
PubMed

Insights

A novel mutation in the CFAP58 gene causes male infertility by disrupting sperm flagella assembly. This finding highlights CFAP58

Area of Science:

  • Reproductive Biology
  • Human Genetics
  • Spermatozoa Morphology

Background:

  • Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) is a severe cause of male infertility.
  • Sperm flagella assembly relies on specific flagella-associated proteins.
  • The genetic basis of MMAF is not fully understood.

Purpose of the Study:

  • To identify the genetic cause of MMAF in two Pakistani families.
  • To investigate the role of the CFAP58 gene in sperm flagella formation.
  • To validate the pathogenicity of a novel CFAP58 mutation using a mouse model.

Main Methods:

  • Genetic sequencing to identify mutations in affected families.
  • Development and analysis of a Cfap58 mutant mouse model.
  • Transmission electron microscopy (TEM) to examine sperm flagellar ultrastructure.

Main Results:

  • A homozygous CFAP58 mutation (c.562C>T, p.R188*) was identified in patients with MMAF.
  • Cfap58 mutant mice displayed infertility and MMAF phenotype, mirroring human patients.
  • TEM revealed absence of the central pair microtubules in sperm flagella of mutants, indicating disrupted axoneme assembly.

Conclusions:

  • The identified CFAP58 mutation is pathogenic and causes MMAF by disrupting sperm axoneme central pair assembly.
  • CFAP58 plays a crucial and conserved role in sperm flagella formation.
  • CFAP58 can be a potential genetic marker for diagnosing MMAF and male infertility.
Keywords:
CFAP58CP AssemblyMMAFMale Infertility

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