School of Pharmaceutical Sciences, Xiamen University, Xiamen, China.
Department of Reproductive Medicine, Xiamen Maternity and Child Care Hospital, Xiamen, China.
Clin Genet. 2018 Feb;93(2):345-349. doi: 10.1111/cge.13059. Epub 2017 Sep 4.
Asthenozoospermia (AZS) is a common cause of male infertility, characterized by abnormal reduction in the motility of ejaculated spermatozoa. Here, in a patient from a consanguineous family, we identified a homozygous mutation (c.G4343A, p.R1448Q) in SPAG17 by whole-exome sequencing. The encoded protein, SPAG17, localizes to the axonemal central apparatus and is considered essential for flagellar waveform. In silico analysis revealed that R1448Q is a potential pathogenic mutation. Immunostaining and western blot assays showed that the R1448Q mutation may exert a negative effect on the steady-state of the SPAG17 protein. Therefore, SPAG17 may be a new pathogenic gene causing AZS.
弱精症（AZS）是男性不育的常见原因，其特征是射出精子的运动能力异常降低。在这里，我们通过全外显子组测序在一名来自近亲家庭的患者中鉴定出 SPAG17 中的纯合突变（c.G4343A，p.R1448Q）。编码的 SPAG17 蛋白定位于轴丝中央装置，被认为对鞭毛波形至关重要。计算机分析显示 R1448Q 是一种潜在的致病突变。免疫染色和 Western blot 分析表明，R1448Q 突变可能对 SPAG17 蛋白的稳态产生负面影响。因此，SPAG17 可能是导致 AZS 的一个新的致病基因。
