Ontology highlight
ABSTRACT:
SUBMITTER: Pan X
PROVIDER: S-EPMC8241442 | biostudies-literature | 2021 Jun
REPOSITORIES: biostudies-literature
Pan Xingyu X Zhao Jingrong J Zhou Zhiying Z Chen Jijun J Yang Zhenxing Z Wu Yuxuan Y Bai Meizhu M Jiao Yang Y Yang Yun Y Hu Xuye X Cheng Tianling T Lu Qianyun Q Wang Bin B Li Chang-Lin CL Lu Ying-Jin YJ Diao Lei L Zhong Yan-Qing YQ Pan Jing J Zhu Jianmin J Xiao Hua-Sheng HS Qiu Zi-Long ZL Li Jinsong J Wang Zefeng Z Hui Jingyi J Bao Lan L Zhang Xu X
eLife 20210629
The congenital intellectual disability (ID)-causing gene mutations remain largely unclear, although many genetic variations might relate to ID. We screened gene mutations in Chinese Han children suffering from severe ID and found a single-nucleotide polymorphism (SNP) in the 5'-untranslated region (5'-UTR) of fibroblast growth factor 13 (FGF13) mRNA (NM_001139500.1:c.-32c>G) shared by three male children. In both HEK293 cells and patient-derived induced pluripotent stem cells, this SNP reduced t ...[more]