ArticleMolecular genetics and genomics : MGG2023
A novel homozygous mutation in ACTL7A leads to male infertility.
Article in Molecular genetics and genomics : MGG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 18 citations in OpenAlex.
- ELAPOR1 mediated vesicle traffic is required for acrosome biogenesis and male fertility in mice.Cellular and molecular life sciences : CMLS · 2026Article
- Oxidative Stress-Associated Alterations in Sperm ACTL7A Expression and Function in Men With Varicocele.Oxidative medicine and cellular longevity · 2026Article
- A Novel Variant of theGenes · 2025Article
- A comparison of spermatogenesis between flies and men-conserved processes of male gamete production.Human reproduction update · 2025Review
- Article
- Unraveling the mysteries of early embryonic arrest: genetic factors and molecular mechanisms.Journal of assisted reproduction and genetics · 2024Review
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- High rate of detected variants in maleHuman reproduction open · 2024Article
- Loss of ACTL7A causes small head sperm by defective acrosome-acroplaxome-manchette complex.Reproductive biology and endocrinology : RB&E · 2023Article
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Authors and funding
18 authors at 2 institutions in 1 country.
Funding
Abstract
Male infertility, a global public health problem, exhibits complex pathogenic causes and genetic factors deserve further discovery and study. We identified a novel homozygous missense mutation c.224A > C (p.D75A) in ACTL7A gene in two infertile brothers with teratozoospermia by whole-exome sequencing (WES). In vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) showed fertilization failure of the two affected couples. The three-dimensional (3D) models showed that a small section of α-helix transformed into random coil in the mutant ACTL7A protein and mutant amino acid lacked a hydrogen bond with Ser170 amino acid. Immunofluorescence revealed that ACTL7A protein was degraded in sperms of patients. Transmission electron microscopy (TEM) analysis of sperms from the infertile patients showed that the irregular perinuclear theca (PT) and acrosomal ultrastructural defects. Furthermore, ACTL7A mutation caused abnormal localization and reduced the expression of PLCZ1 in sperms of the patients, which may be the key reasons for the fertilization failure after ICSI. Our findings expand the spectrum of ACTL7A mutations and provide novel theoretical basis for genetic counseling.
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