ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Point-of-care whole-exome sequencing of idiopathic male infertility.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 86 papers, 2 of them syntheses that pooled it.
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Who cites it
86 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships.Human reproduction update · 2021Pooled it
- A systematic review and standardized clinical validity assessment of male infertility genes.Human reproduction (Oxford, England) · 2019Pooled it
- Areas of Controversy and Confusion in Male Infertility: A Call for Clarity.The world journal of men's health · 2026Article
- Whole-genome sequencing identifies a potentially causative homozygous splicing variant inInternational journal of reproductive biomedicine · 2026Article
- YBX1 downregulation links to impaired spermatogonial stem cells function potentially through inhibiting miRNAs production.iScience · 2026Article
- Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.Journal of assisted reproduction and genetics · 2026Article
- Mechanism and potential therapeutic strategies of genetic abnormalities involved in deoxyribonucleic acid double-strand breaks leading to the development of human non-obstructive azoospermia.Reproductive biology and endocrinology : RB&E · 2026Review
- The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.Human reproduction update · 2026Review
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- CK1α in Sertoli cells is essential for testicular development and spermatogenesis in mice.Zoological research · 2025Article
- Exome sequencing in a Pakistani male infertility cohort: perspective on molecular diagnosis, genetic heterogeneity, and diagnostic yield.Molecular genetics and genomics : MGG · 2025Article
- The transcriptional regulation of NUPR1 expression by MYC is implicated in the regulation of ferroptosis in human spermatogonial stem cells.Cellular and molecular life sciences : CMLS · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Genetic and functional analysis reveals novel mutations in meiotic genes underlying non-obstructive azoospermia.Journal of assisted reproduction and genetics · 2025Article
- Article
- HumanTestisDB: A Comprehensive Atlas of Testicular Transcriptomes and Cellular Interactions.Genomics, proteomics & bioinformatics · 2025Article
- Telomeres, the nuclear lamina, and membrane remodeling: Orchestrating meiotic chromosome movements.The Journal of cell biology · 2025Review
- Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes.Journal of assisted reproduction and genetics · 2025Article
- Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.Human molecular genetics · 2025Article
- Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.Frontiers in endocrinology · 2025Review
26 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeNonobstructive azoospermia (NOA) affects 1% of the male population; however, despite state-of-the-art clinical assessment, for most patients the cause is unknown. We capitalized on an analysis of multiplex families in the Middle East to identify highly penetrant genetic causes.
methodsWe used whole-exome sequencing (WES) in 8 consanguineous families and combined newly discovered genes with previously reported ones to create a NOA gene panel, which was used to identify additional variants in 75 unrelated idiopathic NOA subjects and 74 fertile controls.
resultsIn five of eight families, we identified rare deleterious recessive variants in CCDC155, NANOS2, SPO11, TEX14, and WNK3 segregating with disease. These genes, which are novel to human NOA, have remarkable testis-specific expression, and murine functional evidence supports roles for them in spermatogenesis. Among 75 unrelated NOA subjects, we identified 4 (~5.3%) with additional recessive variants in these newly discovered genes and 6 with deleterious variants in previously reported NOA genes, yielding an overall genetic etiology for 13.3% subjects versus 0 fertile controls (p = 0.001).
conclusionNOA affects millions of men, many of whom remain idiopathic despite extensive laboratory evaluation. The genetic etiology for a substantial fraction of these patients (>50% familial and >10% sporadic) may be discovered by WES at the point of care.
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