A systematic review on the genetics of male infertility in the era of next-generation sequencing.

Publication Type	Academic Article
Authors	Robay A, Abbasi S, Akil A, El-Bardisi H, Arafa M, Crystal R, Fakhro K
Journal	Arab J Urol
Volume	16
Issue	1
Pagination	53-64
Date Published	02/14/2018
ISSN	2090-598X
Abstract	OBJECTIVES: To identify the role of next-generation sequencing (NGS) in male infertility, as advances in NGS technologies have contributed to the identification of novel genes responsible for a wide variety of human conditions and recently has been applied to male infertility, allowing new genetic factors to be discovered. MATERIALS AND METHODS: PubMed was searched for combinations of the following terms: 'exome', 'genome', 'panel', 'sequencing', 'whole-exome sequencing', 'whole-genome sequencing', 'next-generation sequencing', 'azoospermia', 'oligospermia', 'asthenospermia', 'teratospermia', 'spermatogenesis', and 'male infertility', to identify studies in which NGS technologies were used to discover variants causing male infertility. RESULTS: Altogether, 23 studies were found in which the primary mode of variant discovery was an NGS-based technology. These studies were mostly focused on patients with quantitative sperm abnormalities (non-obstructive azoospermia and oligospermia), followed by morphological and motility defects. Combined, these studies uncover variants in 28 genes causing male infertility discovered by NGS methods. CONCLUSIONS: Male infertility is a condition that is genetically heterogeneous, and therefore remarkably amenable to study by NGS. Although some headway has been made, given the high incidence of this condition despite its detrimental effect on reproductive fitness, there is significant potential for further discoveries.
DOI	10.1016/j.aju.2017.12.003
PubMed ID	29713536
PubMed Central ID	PMC5922186