ArticleJournal of assisted reproduction and genetics2020
Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.Human reproduction open · 2025Article
- Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.Journal of endocrinological investigation · 2023Article
- Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.Cell cycle (Georgetown, Tex.) · 2023Article
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- Genomic testing for copy number and single nucleotide variants in spermatogenic failure.Journal of assisted reproduction and genetics · 2022Article
- Translational aspects of novel findings in genetics of male infertility-status quo 2021.British medical bulletin · 2021Review
- Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2021Article
- Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.Genes · 2021Article
- Infertility: Practical Clinical Issues for Routine Investigation of the Male Partner.Journal of clinical medicine · 2020Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis.
methodsA total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel including AR, FSHB, FSHR, KLHL10, NR5A1, NANOS1, SEPT12, SYCP3, TEX11 genes. Variants with minor allele frequency < 1% were confirmed by Sanger sequencing.
resultsNineteen missense variants were detected in 23 subjects with abnormal sperm count, whilst no variants were identified in normozoospermic men. Of identified variants, we prioritized variants classified as pathogenic and of uncertain significance (VUS) (63.1%, 12/19). No missense variants were found in males with normal seminal parameters (0/67). Therefore, the prevalence of variants was significantly higher in patients with spermatogenic impairment (16/174 vs 0/67, p = 0.007).
conclusionThis study confirms the utility to apply NGS panel for infertility diagnosis in order to find new genetic variants potentially linked to male infertility with much higher accuracy than standard tests suggested by guidelines. Indeed, based on biological significance, prevalence in the general population and clinical data of patients, it is plausible that identified variants in this study might be linked to quantitative spermatogenic impairment, although further studies are needed.
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