ReviewJournal of assisted reproduction and genetics2024
Genetic etiological spectrum of sperm morphological abnormalities.
Review in Journal of assisted reproduction and genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Human pyriform sperm heads in infertile men and assisted reproductive technology outcomes: a retrospective cohort study based on propensity score matching.Asian journal of andrology · 2026Article
- Novel biallelic FSIP2 variants cause male infertility with multiple morphological abnormalities of sperm flagella in humans.Asian journal of andrology · 2026Article
- A Novel Hemizygous CDX4 Missense Variant Identified in a Taiwanese Man with Severe Teratozoospermia.Medicina (Kaunas, Lithuania) · 2026Article
- TEX29 is a novel acrosome marker dispensable for spermatogenesis and fertilization in mice.Journal of assisted reproduction and genetics · 2026Article
- Novel homozygous or compound heterozygous DNAH17 variants lead to male infertility characterized by multiple morphological abnormalities of the sperm flagella and asthenoteratozoospermia in humans.Asian journal of andrology · 2026Article
- Functional heterogeneity of sperm binding to the ZP2 N terminus across normospermic and infertile phenotypes.Journal of translational medicine · 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
- HomozygousTranslational andrology and urology · 2026Article
- Deficiency in homozygous haplotypes reveals recessive lethal variants affecting fertility and viability in the Friesian horse.BMC genomics · 2026Article
- The spermatozoon neck role in infertility and intracytoplasmic sperm injection outcomes.Journal of assisted reproduction and genetics · 2026Review
- Article
- Human teratozoospermia-related AGTPBP1 R791H mutation is associated with sperm head and tail defects in a CRISPR-engineered murine model.Journal of assisted reproduction and genetics · 2026Article
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- Biallelic variants in DNAH11 cause male infertility with asthenozoospermia in a Chinese non-consanguineous family: A case report.Medicine · 2025Article
- Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing.Scientific reports · 2025Article
- Cilia.Pro database of ciliary proteins from vertebrates,Molecular biology of the cell · 2025Article
- Article
- Case Report: A homozygous mutation in theFrontiers in reproductive health · 2025Article
- Research progress on the mechanism underlying the application of mesenchymal stem cells in the treatment of male infertility.Frontiers in endocrinology · 2025Review
- A subset of evolutionarily conserved centriolar satellite core components is crucial for sperm flagellum biogenesis.Theranostics · 2025Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
purposeMale infertility manifests in the form of a reduction in sperm count, sperm motility, or the loss of fertilizing ability. While the loss of sperm production can have mixed reasons, sperm structural defects, cumulatively known as teratozoospermia, have predominantly genetic bases. The aim of the present review is to undertake a comprehensive analysis of the genetic mutations leading to sperm morphological deformities/teratozoospermia.
methodsWe undertook literature review for genes involved in sperm morphological abnormalities. The genes were classified according to the type of sperm defects they cause and on the basis of the level of evidence determined by the number of human studies and the availability of a mouse knockout.
resultsMutations in the SUN5, CEP112, BRDT, DNAH6, PMFBP1, TSGA10, and SPATA20 genes result in acephalic sperm; mutations in the DPY19L2, SPATA16, PICK1, CCNB3, CHPT1, PIWIL4, and TDRD9 genes cause globozoospermia; mutations in the AURKC gene cause macrozoospermia; mutations in the WDR12 gene cause tapered sperm head; mutations in the RNF220 and ADCY10 genes result in small sperm head; mutations in the AMZ2 gene lead to vacuolated head formation; mutations in the CC2D1B and KIAA1210 genes lead to pyriform head formation; mutations in the SEPT14, ZPBP1, FBXO43, ZCWPW1, KATNAL2, PNLDC1, and CCIN genes cause amorphous head; mutations in the SEPT12, RBMX, and ACTL7A genes cause deformed acrosome formation; mutations in the DNAH1, DNAH2, DNAH6, DNAH17, FSIP2, CFAP43, AK7, CHAP251, CFAP65, ARMC2 and several other genes result in multiple morphological abnormalities of sperm flagella (MMAF).
conclusionsAltogether, mutations in 31 genes have been reported to cause head defects and mutations in 62 genes are known to cause sperm tail defects.
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