Abstract
Infertility affects one in six couples, of which half of the cases are explained by a male factor. The causes of severe spermatogenic failure remain poorly understood. Although thousands of genes are known to be involved in spermatogenesis, there is a lack of diagnostically relevant genes for this disorder. A recent report by Gou et al. suggested that variants in the D-box region of PIWIL1 are a recurrent cause of male infertility. However, we observed several inconsistencies in the sequencing data reported. In this study, we combined the genomic data from three large-scale sequencing projects adding up to a total of 2,740 male infertility cases to replicate the findings. We could not reproduce the mutational hotspot in the D-box region and did not identify variants likely to result in infertility in this gene. We conclude that variants in PIWIL1 do not play a major role in human male infertility.
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