Novel NLRP14 Mutations Induce Azoospermia

Background. LR family pyrin domain-containing 14 (NLRP14 or NALP14) is one of the important members NLR and was mainly expressed in testis. It reported that deficiency NALP14 gene mice can cause spermatogenic failure, several mutations have been found oligospermia infertile men. Case Presentation. This study two novel (c.2076delC: p.L697X c.T2963C: p.F988S) our patients with azoospermia. The exonic deletion mutation (c.2076delC) missense (c.T2963C) were firstly screened out by whole-exome sequencing (WES) further verified amplifying specific exons 5 10. Histological analysis testicular biopsy revealed expression detected strongly spermatogonia weakly early spermatocytes. Additionally, this caused meiotic arrest, no postmeiotic round spermatids mature spermatozoa observed seminiferous tubules. Conclusions. previous literatures showed NLRP14 are closely related to male infertility; we discovered summarized kinds on infertility. first report all lead azoospermia, which still significant clinical auxiliary diagnosis