Genetic etiology of Asthenozoospermia: A review

Background: Asthenozoospermia, as the most prevalent cause of male infertility, is defined as low percentage of progressively motile spermatozoa per ejaculate. It occurs in both non-syndromic and syndromic forms and later it manifests as a part of primary ciliary dyskinesia. In the last decade, with the advent of Next-generation sequencing technologies numerous genes have been introduced in the pathogenesis of different diseases. Here, we review the genes implicated in asthenozoospermia by genetic studies. Materials and Methods: Strategies employed by infertility genetics studies in original research articles extracted from PubMed database are critically reviewed. Afterwards, genes implicated in asthenozoospermia and primary ciliary dyskinesia are discussed. Results: Until today, pathogenic variants in DNAH1, SEPT12, SLC26A8, CATSPER1, CATSPER2 and ADCY10 have been reported to cause non-syndromic asthenozoospermia. Moreover, DNAI1, DNAH5, DNAAF2, CCDC39, DYC1X1 and LRRC6 have been implicated in primary ciliary dyskinesia and syndromic asthenozoospermia. Conclusion: Next-generation sequencing technologies and especially whole-exome sequencing in families with multiple asthenozoospermic patients showed considerable success in introduction of genes involved in asthenozoospermia leading to a more comprehensive knowledge on genetics of infertility.