Xuanjin Du, Chunyan Wang, Jialu Liu, Minghui Yu, Haixin Ju, Shanshan Xue, Yaxin Li, Jiaojiao Liu, Rufeng Dai, Jing Chen, Yihui Zhai, Jia Rao, Xiang Wang, Yubo Sun, Lei Sun, Xiaohui Wu, Hong Xu, Qian Shen
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are prevalent birth defects. Although pathogenic CAKUT genes are known, they are insufficient to reveal the causes for all patients. Our previous studies indicated GEN1 as a pathogenic gene of CAKUT in mice, and this study further investigated the correlation between GEN1 and human CAKUT. METHODS: In this study, DNA from 910 individuals with CAKUT was collected; 26 GEN1 rare variants were identified, and two GEN1 (missense) variants in a non-CAKUT group were found...
April 24, 2024: Human Genomics