Dan-Dan Ruan, Xing-Lin Ruan, Ruo-Li Wang, Xin-Fu Lin, Yan-Ping Zhang, Bin Lin, Shi-Jie Li, Min Wu, Qian Chen, Jian-Hui Zhang, Qiong Cheng, Yi-Wu Zhang, Fan Lin, Jie-Wei Luo, Zheng Zheng, Yun-Fei Li
Hypomyelinating leukodystrophy (HLD) is a rare genetic heterogeneous disease that can affect myelin development in the central nervous system. This study aims to analyze the clinical phenotype and genetic function of a family with HLD-7 caused by POLR3A mutation. The proband (IV6) in this family mainly showed progressive cognitive decline, dentin dysplasia, and hypogonadotropic hypogonadism. Her three old brothers (IV1, IV2, and IV4) also had different degrees of ataxia, dystonia, or dysarthria besides the aforementioned manifestations...
April 1, 2024: Scientific Reports