ArticleJournal of assisted reproduction and genetics2026
Disruption of meiotic double-strand break dynamics provokes germline human infertility in both sexes.
Article in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeTo explore genetic basis leading to meiotic disruption in human gametogenesis via exome sequencing.
methodsThis study included three consanguineous families with well-defined infertility phenotypes. Exome sequencing was performed for the index case in family 1 and for the trio (index with parents) in the other two families. Sanger sequencing was used for confirmation and family segregation analysis.
resultsExome sequencing revealed homozygous loss-of-function variations in SPIDR, TOP6BL, and RAD51AP2 in families 1, 2, and 3, respectively. Segregation in individual families revealed that the parents were carriers, as were the fertile siblings in families 1 and 2. All three genes function in double-strand break formation or repair, identified variants may therefore impair, potentially preventing its completion and contributing to infertility in the index cases. Gene-disease relationships (GDR) were re-evaluated due to the addition of new patients and/or variants in the literature.
conclusionOur findings provide additional evidence for the role of SPIDR, TOP6BL, and RAD51AP2 as genetic contributors to human infertility due to meiotic errors. For patients with a similar phenotype, genetic screening could be recommended, and the identification of pathogenic variations might help avoid unsuccessful fertility treatments. Additionally, in patients with molecular defects in DNA repair genes, chromosomal instability may increase the risk of cancer; therefore, long-term follow-up by a multidisciplinary team is recommended.
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