Huimei Zheng, Chenjia Gong, Jingping Li, Jiaru Hou, Xinhan Gong, Xinhai Zhu, Huan Deng, Haoyue Wu, Fengbin Zhang, Qinghua Shi, Jianteng Zhou, Baolu Shi, Xiaohang Yang, Yongmei Xi
Oligoasthenoteratospermia (OAT), characterized by abnormally low sperm count, poor sperm motility, and abnormally high number of deformed spermatozoa, is an important cause of male infertility. Its genetic basis in many affected individuals remains unknown. Here, we found that CCDC157 variants are associated with OAT. In two cohorts, a 21-bp (g.30768132_30768152del21) and/or 24-bp (g.30772543_30772566del24) deletion of CCDC157 were identified in five sporadic OAT patients, and 2 cases within one pedigree. In a mouse model, loss of Ccdc157 led to male sterility with OAT-like phenotypes...
April 2024: Journal of Cellular and Molecular Medicine