Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
Weiyu LiHuan WuFuping LiShixiong TianZine-Eddine KherrafJintao ZhangXiaoqing NiMingrong LvChunyu LiuQing TanYing ShenAmir Amiri-YektaCaroline CazinJingjing ZhangWangjie LiuYan ZhengHuiru ChengYingbi WuJiajia WangYang GaoYujie ChenXiaomin ZhaLi JinMingxi LiuXiao-Jin HePierre F RayYunxia CaoFeng ZhangPublished in: Journal of medical genetics (2019)
Our experimental observations performed on both human subjects and on Cfap65-mutated mice demonstrate that the presence of biallelic mutations in CFAP65 causes the MMAF phenotype and impairs sperm motility.