ArticleHuman genetics2021
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group.Andrology · 2026Guideline
- Molecular Drivers of Developmental Arrest in the Human Preimplantation Embryo: A Systematic Review and Critical Analysis Leading to Mapping Future Research.International journal of molecular sciences · 2021Pooled it
- Reduced and Mislocalized ACTL7A in Globozoospermia: Implications for Sperm Chromatin Integrity and Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- Effect of autophagy-related (Atg) protein 5 on mouse epididymal sperm maturation.Journal of assisted reproduction and genetics · 2026Article
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- Exome-wide association study reveals 7 functional variants associated with ex-vivo drug response in acute myeloid leukemia patients.BMC medical genomics · 2025Article
- Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.Cellular and molecular life sciences : CMLS · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia.Frontiers in genetics · 2024Article
- Advances in the study of genetic factors and clinical interventions for fertilization failure.Journal of assisted reproduction and genetics · 2023Review
- Structure, sequon recognition and mechanism of tryptophan C-mannosyltransferase.Nature chemical biology · 2023Article
- Globozoospermia: A Case Report and Systematic Review of Literature.The world journal of men's health · 2023Article
- Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.Human reproduction (Oxford, England) · 2022Article
- Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.Journal of assisted reproduction and genetics · 2022Article
- Translational aspects of novel findings in genetics of male infertility-status quo 2021.British medical bulletin · 2021Review
- FAM71F1 binds to RAB2A and RAB2B and is essential for acrosome formation and male fertility in mice.Development (Cambridge, England) · 2021Article
- Will whole-genome sequencing become the first-line genetic analysis for male infertility in the near future?Basic and clinical andrology · 2021Article
- Deletion of theInternational journal of molecular sciences · 2021Article
- Towards Post-Meiotic Sperm Production: Genetic Insight into Human Infertility from Mouse Models.International journal of biological sciences · 2021Review
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Authors and funding
43 authors at 17 institutions in 1 country.
Funding
Abstract
Globozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is by far the most frequent defect identified. Here, we present a large cohort of 69 patients with 20-100% of globozoospermia. Genetic analyses including multiplex ligation-dependent probe amplification, Sanger sequencing and whole-exome sequencing identified 25 subjects with a homozygous DPY19L2 deletion (36%) and 14 carrying other DPY19L2 defects (20%). Overall, 11 deleterious single-nucleotide variants were identified including eight novel and three already published mutations. Patients with a higher rate of round-headed spermatozoa were more often diagnosed and had a higher proportion of loss of function anomalies, highlighting a good genotype phenotype correlation. No gene defects were identified in patients carrying < 50% of globozoospermia while diagnosis efficiency rose to 77% for patients with > 50% of globozoospermia. In addition, results from whole-exome sequencing were scrutinized for 23 patients with a DPY19L2 negative diagnosis, searching for deleterious variants in the nine other genes described to be associated with globozoospermia in human (C2CD6, C7orf61, CCDC62, CCIN, DNAH17, GGN, PICK1, SPATA16, and ZPBP1). Only one homozygous novel truncating variant was identified in the GGN gene in one patient, confirming the association of GGN with globozoospermia. In view of these results, we propose a novel diagnostic strategy focusing on patients with at least 50% of globozoospermia and based on a classical qualitative PCR to detect DPY19L2 homozygous deletions. In the absence of the latter, we recommend to perform whole-exome sequencing to search for defects in DPY19L2 as well as in the other previously described candidate genes.
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