School of Life Sciences, Xiamen University, Xiamen 361002, China.
Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, School of Public Health & Women and Children's Hospital, Xiamen University, Xiamen 361005, China.
Acta Biochim Biophys Sin (Shanghai). 2021 Mar 26;53(4):472-480. doi: 10.1093/abbs/gmab013.
Asthenoteratospermia is an important cause of male infertility. Here, we report two infertile patients with severe asthenoteratospermia accompanied by new genetic abnormality. Whole-exome sequencing and bioinformatics analysis suggested that compound heterozygous mutations in DNAH8 (MIM:603337) may be responsible for multiple morphological abnormalities of the sperm flagella (MMAF). Immunofluorescence assay showed that DNAH8 protein expression was significantly decreased in the sperm tail of the patients, and electron microscopy exhibited an abnormal flagellum ultrastructure, while clinical pregnancy could be achieved by intracytoplasmic sperm injection. Therefore, the compound heterozygous mutations in the DNAH8 gene may be responsible for MMAF.
弱精症是男性不育的重要原因之一。在这里，我们报告了两名严重弱精症的不育患者，他们伴有新的遗传异常。全外显子组测序和生物信息学分析提示 DNAH8（MIM：603337）中的复合杂合突变可能导致精子鞭毛的多种形态异常（MMAF）。免疫荧光检测显示患者精子尾部的 DNAH8 蛋白表达明显降低，电镜显示鞭毛超微结构异常，而通过胞浆内单精子注射可实现临床妊娠。因此，DNAH8 基因的复合杂合突变可能导致 MMAF。
