ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 55 citations in OpenAlex.
- The Potential Role of Deubiquitinating Enzymes (DUBs) in Male Fertility.Biomolecules · 2026Review
- The Role of Whole Exome Sequencing in the Genetic Evaluation of the Infertile Man.Advances in experimental medicine and biology · 2026Review
- Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.Children (Basel, Switzerland) · 2025Article
- Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.American journal of hematology · 2025Observational
- Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.Genetics in medicine open · 2025Article
- Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.Human reproduction open · 2025Article
- Sertoli cells-only syndrome: current clinical approaches and ongoing research trends.Frontiers in endocrinology · 2025Review
- Fance deficiency impaired DNA damage repair of prospermatogonia and altered the repair dynamics of spermatocytes.Reproductive biology and endocrinology : RB&E · 2024Article
- Conserved genes regulating human sex differentiation, gametogenesis and fertilization.Journal of translational medicine · 2024Review
- Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency.Human genetics · 2024Article
- Research progress on the fanconi anemia signaling pathway in non-obstructive azoospermia.Frontiers in endocrinology · 2024Review
- A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.Human reproduction open · 2024Article
- Sertoli cell-only syndrome: advances, challenges, and perspectives in genetics and mechanisms.Cellular and molecular life sciences : CMLS · 2023Review
- Genome-Wide Association Screening Determines Peripheral Players in Male Fertility Maintenance.International journal of molecular sciences · 2022Article
- A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome.Stem cell research & therapy · 2022Article
- Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.American journal of human genetics · 2022Article
- Characterization of NFrontiers in veterinary science · 2022Article
- Genetic Factors of Non-Obstructive Azoospermia: Consequences on Patients' and Offspring Health.Journal of clinical medicine · 2021Review
- An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review).Biomedical reports · 2021Review
- FANCI plays an essential role in spermatogenesis and regulates meiotic histone methylation.Cell death & disease · 2021Article
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIn about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. Highly predictive clinical parameter(s) for diagnosing such an adult-onset cases are missing.
methods(1) Exome sequencing (ES), (2) Sanger sequencing of FANCA, (3) diepoxybutane (DEB)-induced chromosome breakage test.
resultsES identified a pathogenic homozygous FANCA variant in a patient affected by Sertoli cell-only syndrome (SCOS) and in his azoospermic brother. Although they had no overt anemia, chromosomal breakage test revealed a reverse somatic mosaicism in the former and a typical FA picture in the latter. In 27 selected SCOS cases, 1 additional patient showing compound heterozygous pathogenic FANCA variants was identified with positive chromosomal breakage test.
conclusionWe report an extraordinarily high frequency of FA in a specific subgroup of azoospermic patients (7.1%). The screening for FANCA pathogenic variants in such patients has the potential to identify undiagnosed FA before the appearance of other severe clinical manifestations of the disease. The definition of this high-risk group for "occult" FA, based on specific testis phenotype with mild/borderline hematological alterations, is of unforeseen clinical relevance.
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