Yangong Wang, Yiran Xu, Chongchen Zhou, Ye Cheng, Niu Qiao, Qing Shang, Lei Xia, Juan Song, Chao Gao, Yimeng Qiao, Xiaoli Zhang, Ming Li, Caiyun Ma, Yangyi Fan, Xirui Peng, Silin Wu, Nan Lv, Bingbing Li, Yanyan Sun, Bohao Zhang, Tongchuan Li, Hongwei Li, Jin Zhang, Yu Su, Qiaoli Li, Junying Yuan, Lei Liu, Andres Moreno-De-Luca, Alastair H MacLennan, Jozef Gecz, Dengna Zhu, Xiaoyang Wang, Changlian Zhu, Qinghe Xing
Cerebral palsy (CP) is the most common motor disability in children. To ascertain the role of major genetic variants in the etiology of CP, we conducted exome sequencing on a large-scale cohort with clinical manifestations of CP. The study cohort comprised 505 girls and 1,073 boys. Utilizing the current gold standard in genetic diagnostics, 387 of these 1,578 children (24.5%) received genetic diagnoses. We identified 412 pathogenic and likely pathogenic (P/LP) variants across 219 genes associated with neurodevelopmental disorders, and 59 P/LP copy number variants...
May 1, 2024: Nature Medicine