Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF.
Mingrong LvWangjie LiuWangfei ChiXiaoqing NiJiajia WangHuiru ChengWei-Yu LiShenmin YangHuan WuJunqiang ZhangYang GaoChunyu LiuCaihua LiChenyu YangQing TanDongdong TangJingjing ZhangBing SongYu-Jie ChenQiang LiYading ZhongZhihua ZhangHexige SaiyinLi JinYuping XuPing ZhouZhaolian WeiChuanmao ZhangXiao-Jin HeFeng ZhangYunxia CaoPublished in: Journal of medical genetics (2020)
Our study strongly suggests that homozygous DZIP1 mutations can induce asthenoteratospermia with severe MMAF. The deficiency of DZIP1 induces sperm centrioles dysfunction and causes the absence of flagella.
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