ArticleMolecular genetics & genomic medicine2022
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 11 citations in OpenAlex.
- TEX44 deficiency induces asthenoteratozoospermia by disrupting sperm axonemal integrity and mitochondrial sheath assembly, and ICSI enables successful fertility rescue.Journal of assisted reproduction and genetics · 2026Article
- Meta-GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- [Whole Exome Sequencing Identified Novel Pathogenic Mutations ofSichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2026Article
- A novel frameshift variant inFrontiers in cell and developmental biology · 2026Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- A Systematic Review of Mendelian Randomization in Spontaneous Miscarriage.Journal of multidisciplinary healthcare · 2025Review
- Intraflagellar Transport (IFT) and Sperm Formation.Advances in experimental medicine and biology · 2025Review
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Review
- SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Integrated miRNA and mRNA Sequencing Reveals the Sterility Mechanism in Hybrid Yellow Catfish Resulting fromAnimals : an open access journal from MDPI · 2024Article
- A novel mutation inFrontiers in endocrinology · 2023Article
- Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMultiple morphological abnormalities of the sperm flagella (MMAF), which is characterized as asthenoteratospermia involving absent, short, bent, coiled, and/or irregular-caliber flagella, is a rare recessive inherited disorder associated with male infertility. To date, genetic causes of MMAF cases are not fully explored.
methodsWhole-exome sequencing was conducted to identify pathogenic variants in a patient with MMAF. The functional effect of the identified mutations was investigated by immunofluorescence staining and western blotting. Intracytoplasmic sperm injection was used to assist fertilization for the patient with MMAF.
resultsWe identified novel biallelic mutations, a splicing variant NC_000004.12:g.146937593C>T (c.254+1G>A), and a nonsense mutation NM_001300761.4:c.1185C>G (NP_001287690.1:p.Tyr395*), in TTC29 from an infertile patient. In addition to the typical MMAF phenotype, the patient also presented aberrant morphology of sperm heads. Further functional experiments confirmed the absence of TTC29 expression in the spermatozoa. We also explored the specific expression pattern of TTC29 in human and mouse spermatogenesis. The outcome of intracytoplasmic sperm injection in the patient was unsuccessful, while additional female risk factors should not be excluded.
conclusionsOur study revealed the novel biallelic mutations in TTC29 in a MMAF patient, which findings expand the mutational spectrum of TTC29 and further contribute to the diagnosis, genetic counseling, and prognosis of male infertility.
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