ArticleAmerican journal of human genetics2016
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 60 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
60 citing papers in PubMed, 160 citations in OpenAlex.
- Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.Scientific reports · 2019Trial
- Cracking the fertility code: a comprehensive review of biomarkers and functional measures.Open biology · 2026Review
- The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.Journal of human genetics · 2026Observational
- The Nuclear Pore Complex Facilitates Centriole-Nuclear Attachment in Spermatids.bioRxiv : the preprint server for biology · 2026Article
- SUN5 forms a regular protein lattice reinforcing the sperm head-tail junction.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- The spermatozoon neck role in infertility and intracytoplasmic sperm injection outcomes.Journal of assisted reproduction and genetics · 2026Review
- Chromosome movements in meiotic prophase: regulatory mechanisms and biological roles.Frontiers in cell and developmental biology · 2026Review
- Centriole Duplication, Maturation, and Transformation During Mammalian Spermatogenesis.Advances in experimental medicine and biology · 2026Review
- A Novel Homozygous Mutation in PMFBP1 Associated with Acephalic Spermatozoa Defects.Biomedicines · 2025Article
- Healthy live birth after microsurgical enucleation of tripronuclear human zygote derived from ICSI: a case report.Journal of ovarian research · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Article
- Meiotic divisions and round spermatid formation do not require centriole duplication in mice.PLoS genetics · 2025Article
- CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility.eLife · 2024Article
- 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
- Discovery of CCDC188 gene as a novel genetic target for human acephalic spermatozoa syndrome.Protein & cell · 2024Article
- Review
- BAG5 regulates HSPA8-mediated protein folding required for sperm head-tail coupling apparatus assembly.EMBO reports · 2024Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acephalic spermatozoa syndrome is a rare and severe form of teratozoospermia characterized by a predominance of headless spermatozoa in the ejaculate. Family clustering and consanguinity suggest a genetic origin; however, causative mutations have yet to be identified. We performed whole-exome sequencing in two unrelated infertile men and subsequent variant filtering identified one homozygous (c.824C>T [p.Thr275Met]) and one compound heterozygous (c.1006C>T [p.Arg356Cys] and c.485T>A [p.Met162Lys]) SUN5 (also named TSARG4) variants. Sanger sequencing of SUN5 in 15 additional unrelated infertile men revealed four compound heterozygous (c.381delA [p.Val128Serfs
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.