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Article

5'-UTR SNP of FGF13 causes translational defect and intellectual disability.

eLife - 29 Jun 2021

Pan Xingyu, Zhao Jingrong, Zhou Zhiying, Chen Jijun, Yang Zhenxing, Wu Yuxuan, Bai Meizhu, Jiao Yang, Yang Yun, Hu Xuye, Cheng Tianling, Lu Qianyun, Wang Bin, Li Chang-Lin, Lu Ying-Jin, Diao Lei, Zhong Yan-Qing, Pan Jing, Zhu Jianmin, Xiao Hua-Sheng, Qiu Zi-Long, Li Jinsong, Wang Zefeng, Hui Jingyi, Bao Lan, Zhang Xu

Abstract excerpt

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...

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Identifiers

PMID: 34184986
DOI: 10.7554/eLife.63021
PMCID: PMC8241442

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