ArticleWorld journal of clinical cases2022
Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome: A case report.
Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Systemic and proximal tubule specific knockout ofPhysiological genomics · 2026Article
- The Nuclear Pore Complex Facilitates Centriole-Nuclear Attachment in Spermatids.bioRxiv : the preprint server for biology · 2026Article
- Molecular models of the sperm head-tail coupling apparatus.Journal of cell science · 2025Review
- CCDC113 stabilizes sperm axoneme and head-tail coupling apparatus to ensure male fertility.eLife · 2024Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- Loss of PMFBP1 Disturbs Mouse Spermatogenesis by Downregulating HDAC3 Expression.Journal of assisted reproduction and genetics · 2023Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAcephalic spermatozoa syndrome (ASS) is an extremely rare form of severe teratozoospermia, where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and tails. CASE SUMMARY: We reported the case of a male patient with secondary infertility whose sperm showed typical ASS upon morphological analysis. Whole-exome sequencing was performed on the patient's peripheral blood, which revealed two heterozygous variants of the
conclusionIt is speculated that the compound homozygous mutation of
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