Asthenozoospermia is a common cause of male infertility associated with the reduced motility and/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoospermia. However, the MMAF‐associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss‐of‐function mutation of DNAH8 was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression was confirmed by immunofluorescence staining and western blotting. Remarkably, it is the first time that DNAH8 is suggested to be associated with human MMAF. Our findings provide strong evidence that a loss‐of‐function mutation in DNAH8 can cause male infertility with MMAF and that DNAH8 is essential for sperm flagellar formation.

中文翻译：

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DNAH8的功能丧失突变诱导了与精子鞭毛的多种形态异常有关的无精子症。

精子弱精症是男性不育的常见原因，其与精子活动力降低和/或形态异常有关，尽管其病因尚不完全清楚。精子鞭毛（MMAF）的多种形态异常是弱精子症的主要原因之一。但是，迄今为止确定的与MMAF相关的基因不能解释所有人类MMAF病例。在此，在患有MMAF的弱精子症患者中鉴定出DNAH8的功能丧失突变。此外，通过免疫荧光染色和蛋白质印迹证实了该突变对DNAH8表达的负面影响。值得注意的是，这是DNAH8的首次建议与人类MMAF相关。我们的发现提供了有力的证据，证明DNAH8的功能丧失突变可能导致MMAF导致男性不育，并且DNAH8对精子鞭毛的形成至关重要。