Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia.
Chencheng YaoChao YangLiangyu ZhaoPeng LiRuhui TianHuixing ChenYing GuoYuhua HuangErlei ZhiJing ZhaiHongfang SunJianxiong ZhangYan HongLi ZhangZhiyong JiFeng ZhangZhi ZhouZheng LiPublished in: Journal of medical genetics (2020)
To the best of our knowledge, this is the first report identifying SHOC1 as the causative gene for human NOA. Furthermore, our study showed an autosomal recessive mode of inheritance in the NOA caused by SHOC1 deficiency.