SEP712基因突变伴严重弱精合并多嚢肾一例并文献复习.

Objective：To report the mutations of SEPT12 gene in one case of severe asthenospermia combined with polycystic kidney, and discuss the possible role of SEPT12 gene by additional literature review. Methods：The clinical manifestations, laboratory tests and genetic test in a patient with severe asthenospermia and polycystic kidney were summarised, and related literatures were reviewed. Results：The c.947A＞G (p.N316S) and c.900C>G (p.D300E) mutations of SEPT12 gene were found by high-throughput sequencing in this case. After careful deliberation, this patient had his baby by intrauterine insemination (IUI) with donor′s semen. Conclusions： We reported the c.947A＞G (p.N316S) and c.900C＞G (p.D300E) mutations of SEPT12 gene in a patients with severe asthenospermia and polycystic kidney. In clinical practice, polycystic kidney should be checked in those patients with severe asthenospermia, and high-throughput sequencing used to test the related gene mutation. The preimplantation genetic diagnosis (PGD) or IUI with donor′s semen should be suggested for those patients. [ABSTRACT FROM AUTHOR]