Zhihua Zhang, Ling Wu, Feiyang Diao, Biaobang Chen, Jing Fu, Xiaoyan Mao, Zheng Yan, Bin Li, Jian Mu, Zhou Zhou, Wenjing Wang, Lin Zhao, Jie Dong, Yang Zeng, Jing Du, Yanping Kuang, Xiaoxi Sun, Lin He, Qing Sang, Lei Wang
PURPOSE: To screen novel mutations in LHCGR responsible for empty follicle syndrome and explore the pathological mechanism of mutations. METHODS: Four affected individuals diagnosed with infertility-associated anovulation or oligo-ovulation from three independent families were recruited. Sanger sequencing was used to identify the LHCGR mutations in affected individuals. Western blot was performed to evaluate the effects of mutations on LHCGR protein levels. Immunofluorescence was done to explore the effects of mutations on LHCGR subcellular localization...
November 2020: Journal of Assisted Reproduction and Genetics