Male infertility is a heterogeneous disorder which may result from disruption in molecular and cellular pathways involved in spermatogenesis. Several reports have described abnormal spermatogenesis because of defective autophagy in model organisms.

In the present study, we have clinically and genetically characterized a family segregating oligozoospermia in X-linked pattern. Exome sequencing revealed a disease-causing missense variant [NM_002536, c.149A>C, p.(Glu50Ala)] in TBC1D25, an autophagy gene located on human chromosome Xp11.23. In view of broad expression of the gene in testes and effect of the variant on its interaction with ATG8 homologues, we consider a possible role for the TBC1D25 variant in causing oligozoospermia in the present family. This is the first report describing the involvement of TBC1D25 in causing male infertility.

男性不育是一种异质性疾病，可能由精子发生中涉及的分子和细胞途径破坏引起。几篇报道描述了由于模型生物体内自噬缺陷导致的精子发生异常。

在本研究中，我们已经在临床和遗传学上以X连锁模式分离了少精子症的家庭特征。外显子组测序结果显示，TBC1D25是一种导致人类疾病的错义变体[NM_002536，c.149A> C，p。（Glu50Ala）] ，该基因位于人Xp11.23染色体上。鉴于该基因在睾丸中的广泛表达以及该变体对其与ATG8同源物相互作用的影响，我们认为TBC1D25变体在本家族中引起少精症的可能作用。这是第一份描述TBC1D25参与引起男性不育症的报道。