Genetic etiology of Asthenozoospermia: A review

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. 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. 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. 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.