SEPT12基因突变伴严重弱精合并多囊肾一例并文献复习

Severe Asthenospermia Combined with Polycystic Kidney due to Gene Mutation of SEPT12:A Case Report and Literature Review

目的:报道1例严重弱精子症合并多囊肾患者的SEPT12基因突变,通过文献复习,探讨SEPT12基因突变的病理作用。方法:回顾1例严重弱精子症合并多囊肾患者的临床表现、实验室检查和基因检测结果,结合相关文献资料进行总结分析。结果:本例患者为SEPT12基因c.947A>G(p.N316S)杂合变异和c.900C>G(p.D300E)杂合变异。患者可以选择胚胎植入前遗传学诊断或者供精,患者夫妇经过慎重考虑后选择供精人工授精以避免将遗传病传给子代。结论:此例严重弱精子症合并多囊肾患者携带的SEPT12基因c.947A>G(p.N316S)杂合变异和c.900C>G(p.D300E)杂合变异患者的诊治过程,提示在临床上遇到严重弱精子症患者,要考虑是否存在成人型多囊肾的可能,采取基因检测发现相关基因的突变,并避免将遗传病传给子代。

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.