ArticleMolecular genetics & genomic medicine2020
Loss-of-function mutation in TSGA10 causes acephalic spermatozoa phenotype in human.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 40 citations in OpenAlex.
- A narrative review on the role of autophagy in male infertility-associated sperm abnormalities.Asian journal of andrology · 2026Review
- A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects.Biomedicines · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Function of manchette and intra-manchette transport in spermatogenesis and male fertility.Cell communication and signaling : CCS · 2025Review
- Review
- Prediction the functional impacts of highly deleterious non-synonymous variants ofMolecular biology research communications · 2025Article
- Pathogenesis of acephalic spermatozoa syndrome caused by PMFBP1 mutation.Basic and clinical andrology · 2024Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family.Basic and clinical andrology · 2024Article
- Transcriptomic signatures for human male infertility.Frontiers in molecular biosciences · 2023Article
- Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.World journal of clinical cases · 2022Article
- Loss-of-function mutations inScience advances · 2022Article
- The novel BRDT inhibitor NHWD870 shows potential as a male contraceptive in mice.Acta biochimica et biophysica Sinica · 2022Article
- Novel mutations of PMFBP1 in a man with acephalic spermatozoa defects.Molecular genetics & genomic medicine · 2022Article
- Application of CRISPR/Cas Technology in Spermatogenesis Research and Male Infertility Treatment.Genes · 2022Review
- Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10.Journal of assisted reproduction and genetics · 2021Article
- Review
- Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa.International journal of molecular sciences · 2021Article
- Pathogenic Variants inFrontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcephalic spermatozoa is an extremely rare type of teratozoospermia that is associated with male infertility. Several genes have been reported to be relevant to acephalic spermatozoa. Thus, more genetic pathogenesis needs to be explored.
methodsWhole-exome sequencing was performed in a patient with acephalic spermatozoa. Then Sanger sequencing was used for validation in the patient and his family. The patient's spermatozoa sample was observed by papanicolaou staining and transmission electron microscopy. Western blot and immunofluorescence were performed to detect the level and localization of related proteins.
resultsA novel homozygous frameshift insertion mutation c.545dupT;p.Ala183Serfs*10 in exon 8 of TSGA10 (NM_001349012.1) was identified. Our results showed misarranged mitochondrial sheath and abnormal flagellum in the patient's spermatozoa. TSGA10 failed to be detected in the patient's spermatozoa. However, the expression of SUN5 and PMFBP1 remained unaffected.
conclusionThese results suggest that the novel homozygous frameshift insertion mutation of TSGA10 is a cause of acephalic spermatozoa.
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