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Novel IFT140 variants cause spermatogenic dysfunction in humans.

Xiong Wang1, Yan-Wei Sha2, Wen-Ting Wang3

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Summary

Novel intraflagellar transport protein 140 homolog (IFT140) variants were identified in a patient with male infertility. These IFT140 gene mutations caused severe spermatogenic dysfunction, leading to infertility in humans.

Keywords:
IFT140genetic variationintraflagellar transportmale infertilityspermatogenic dysfunction

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Area of Science:

  • Genetics and Molecular Biology
  • Reproductive Biology
  • Cell Biology

Background:

  • Intraflagellar transport protein 140 homolog (IFT140) is crucial for cilia and flagella formation and maintenance.
  • IFT140 variants are linked to ciliopathies, but their role in human male fertility was previously undescribed.

Observation:

  • A 27-year-old infertile male presented with severe oligozoospermia, asthenozoospermia, and teratozoospermia.
  • Whole-exome sequencing identified compound heterozygous IFT140 variants (c.1837G>A and c.4247G>A) with autosomal recessive inheritance.

Findings:

  • The identified IFT140 variants exhibited extremely low allele frequencies.
  • Spermatozoa analysis revealed morphological abnormalities and absence of IFT140 protein in the neck and mid-piece.
  • Computational predictions indicated a high probability of damage-causing effects from both variants.

Implications:

  • This study establishes a novel link between IFT140 variants and human male infertility.
  • The findings expand the known spectrum of IFT140-associated disorders.
  • Understanding these genetic factors is crucial for diagnosing and potentially treating male infertility.