Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.
Jiangshan CongXiong WangAmir Amiri-YektaLingbo WangZine-Eddine KherrafChunyu LiuCaroline CazinShuyan TangSeyedeh Hanieh HosseiniShixiong TianAbbas DaneshipourJiaxiong WangYiling ZhouYuyan ZengShenmin YangXiao-Jin HeJinsong LiYunxia CaoLi JinPierre F RayFeng ZhangPublished in: Journal of medical genetics (2021)
Our findings support that CCDC34 is crucial to the formation of sperm flagella and that biallelic deleterious mutations in CCDC34/Ccdc34 cause male infertility with oligoasthenoteratozoospermia in humans and mice.