ArticlePloS one2011
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed.
- Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.Frontiers in endocrinology · 2025Review
- Towards a Multi-Omics of Male Infertility.The world journal of men's health · 2023Review
- Y-chromosome genes associated with sertoli cell-only syndrome identified by array comparative genome hybridization.Biomedical journal · 2023Article
- Microdeletions and microduplications linked to severe congenital disorders in infertile men.Scientific reports · 2023Article
- Genome-Wide Association Screening Determines Peripheral Players in Male Fertility Maintenance.International journal of molecular sciences · 2022Article
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- Article
- Genomic testing for copy number and single nucleotide variants in spermatogenic failure.Journal of assisted reproduction and genetics · 2022Article
- Role of testis‑specific serine kinase 1B in undiagnosed male infertility.Molecular medicine reports · 2022Article
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
- Sertoli cell-only syndrome: etiology and clinical management.Journal of assisted reproduction and genetics · 2021Review
- Article
- The X chromosome and male infertility.Human genetics · 2021Review
- Editorial for the special issue on the molecular genetics of male infertility.Human genetics · 2021Article
- Article
- Underexpression ofInternational journal of reproductive biomedicine · 2021Article
- Disease gene discovery in male infertility: past, present and future.Human genetics · 2021Review
- Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis.Developmental cell · 2020Article
- Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.Journal of assisted reproduction and genetics · 2020Article
- Rotational motion and rheotaxis of human sperm do not require functional CatSper channels and transmembrane CaThe EMBO journal · 2020Article
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A genetic origin is estimated in 30% of infertile men with the common phenotypes of oligo- or azoospermia, but the pathogenesis of spermatogenic failure remains frequently obscure. To determine the involvement of Copy Number Variants (CNVs) in the origin of male infertility, patients with idiopathic severe oligozoospermia (N = 89), Sertoli-cell-only syndrome (SCOS, N = 37)) and controls with normozoospermia (N = 100) were analysed by array-CGH using the 244A/400K array sets (Agilent Technologies). The mean number of CNVs and the amount of DNA gain/loss were comparable between all groups. Ten recurring CNVs were only found in patients with severe oligozoospermia, three only in SCOS and one CNV in both groups with spermatogenic failure but not in normozoospermic men. Sex-chromosomal, mostly private CNVs were significantly overrepresented in patients with SCOS. CNVs found several times in all groups were analysed in a case-control design and four additional candidate genes and two regions without known genes were associated with SCOS (P<1×10(-3)). In conclusion, by applying array-CGH to study male infertility for the first time, we provide a number of candidate genes possibly causing or being risk factors for the men's spermatogenic failure. The recurring, patient-specific and private, sex-chromosomal CNVs as well as those associated with SCOS are candidates for further, larger case-control and re-sequencing studies.
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