The NR5A1 mutation was identification in male infertility

Abstract Background: Recent surveys report one in seven couples with infertility worldwide of which male infertility accounts for 30-50%. Azoospermia is one of the most serious forms of male infertility in men, the reason is that no sperm in the semen and genetic basis remains largely unknown. However, the cause of the disease and the genetic mechanism are still unclear. The aim of this study was to investigate the association between Chinese infertile men and mutation of NR5A1 (Nuclear receptor subfamily 5 group A member 1) gene. Methods: In order to study the mutations related to spermatogenesis genes in male with azoospermia,we sequenced the entire coding region of 52 genes related to sepermatogenesis in 200 infertile Chinese men. Screening for genetic variation and SNPs throughout the coding region by targeted exome sequencing. One previously described missense p.G197E was detected in exon 5 while no mutations were found in other exons. We performed Sanger sequcencing and confimed heterozygous missense mutation in the patient. Results: This patient has a normal karyotype with 46,XY and no abnormality exist in Y chromosome and hormone levels are changed. (eg:FSH, LH, E2, T). FSH is higher than normal, LH is higher than normal, E is lower than normal, PRL is within the normal range, T is lower than normal. Combining the results of this experiment, NR5A1 gene mutation may be associated with male infertility but to confirm this hypothesis more in-depth research is required. Conclusion: In a word, our research reveals a mutation in c.G590A (p.G197E) in NR5A1 which extended the mutation of NR5A1 in Chinese infertile men and increased awareness of infertility caused by azoospermia.