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Background    Egr4  is expressed in primary and secondary spermatocytes in adult mouse testes and has a crucial role in regulating germ cell maturation. The functional loss of  Egr4  blocks spermatogenesis, significantly reducing the number of spermatozoa that are produced. In this study, we examined whether  EGR4  variants are present in Korean men with impaired spermatogenesis.    Methods  A total 170 Korean men with impaired spermatogenesis and 272 normal controls were screened. The coding regions including exon-intron boundaries of  EGR4  were sequenced by PCR-direct sequencing method.    Results  We identified eight sequence variations in the coding region and 3′-UTR regions of the  EGR4  gene. Four were nonsynonymous variants (rs771189047, rs561568849, rs763487015, and rs546250227), three were synonymous variants (rs115948271, rs528939702, and rs7558708), and one variant (rs2229294) was localized in the 3′-UTR. Three nonsynonymous variants [c.65_66InsG (p. Cys23Leufs*37), c.236C > T (p. Pro79Leu), c.1294G > T (p. Val432Leu)] and one synonymous variant [c.1230G > A (p. Thr410)] were not detected in controls. To evaluate the pathogenic effects of nonsynonymous variants, we used seven prediction methods. The c.214C > A (p. Arg72Ser) and c.236C > T (p. Pro79Leu) variants were predicted as “damaging” by SIFT and SNAP 2 . The c.65_66insG (p. Cys23Leufs*37) variants were predicted as “disease causing” by Mutation Taster, SNPs &GO and SNAP 2 . The c.867C > G (p. Leu289) variants were predicted as “disease causing” only by Mutation Taster.    Conclusion  To date, this study is the first to screen the  EGR4  gene in relation to male infertility. However, our findings did not clearly explain how nonsynonymous  EGR4  variations affect spermatogenesis. Therefore, further studies are required to validate the functional impact of  EGR4  variations on spermatogenesis.    Electronic supplementary material  The online version of this article (doi:10.1186/s12881-017-0408-5) contains supplementary material, which is available to authorized users.

Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment