Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.
Xiao-Jin HeWeiyu LiHuan WuMingrong LvWangjie LiuChunyu LiuFuxi ZhuCaihua LiYouyan FangChenyu YangHuiru ChengJunqiang ZhangJing TanTingting ChenDongdong TangBing SongXue WangXiaomin ZhaHongyan WangZhaolian WeiShenmin YangHexige SaiyinPing ZhouLi JinJian WangZhiguo ZhangFeng ZhangYunxia CaoPublished in: Journal of medical genetics (2018)
Our experimental findings elucidate that homozygous loss-of-function mutations in CFAP69 can lead to asthenoteratospermia with MMAF in humans and mice.