Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.
Weili WangChaofeng TuHongchuan NieLanlan MengYong LiShimin YuanQianjun ZhangJuan DuJunpu WangFei GongLiqing FanGuang-Xiu LuJing GuoYue-Qiu TanPublished in: Journal of medical genetics (2019)
To the best of our knowledge, we are the first to report that CFAP65 mutations may cause spermatozoa to be completely immotile.