Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome
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Mutations of the gene coding for SUN5 protein are the most frequent cause of acephalic sperm syndrome.
“Mutations of the gene coding for the SUN5 protein were the first to be recognised, with more than 10 biallelic variants identified. This is the most frequent cause of acephalic sperm syndrome [54, 55].”
From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [55]
The indexed copy contains a correction notice (p. 1405) and publication-site material, but not the original article’s findings. Searches for SUN5 as the most frequent cause and for biallelic-variant frequency found no passage addressing how common SUN5 mutations are relative to other causes. (LLM, conf=0.72)
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Cazin, C., Boumerdassi, Y., Martinez, G., Fourati Ben Mustapha, S., Whitfield, M., Coutton, C., Thierry-Mieg, N., Di Pizio, P., Rives, N., Arnoult, C., et al. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22042187 · Cited by 16 · see citing works
Gatimel, N., Barbotin, A., Mery, L., Beauvillard, D., Bendayan, M., Boursier, A., Boueilh, T., Pereira, B., Chammas, J., Jacquet, J., et al. (2026) · Andrology · doi:10.1111/andr.70134 · Cited by 2 · see citing works
- Authors
- Zhu, F., Wang, F., Yang, X., Zhang, J., Wu, H., Zhang, Z., Zhang, Z., He, X., Zhou, P., Wei, Z., Gecz, J., & Cao, Y.
- Corresponding author
- Zhu, Fuxi
- Cao, Yunxia
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2016-12
- Volume
- 99
- Issue
- 6
- Pages
- 1405
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2944835126
- Cited by
- 48
- References
- 0
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 4 · 2023: 8 · 2022: 7 · 2021: 4 · 2020: 8 · 2019: 3 · 2018: 7
- FWCI
- 4.41
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Rheumatology › Urologic and reproductive health conditions
- Keywords
- acephalic spermatozoa syndrome, teratozoospermia, male infertility, biallelic variants, compound heterozygosity, autosomal recessive inheritance, sperm head abnormalities, consanguinity
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