AI Article Synopsis
- The study investigates gene mutations that may cause congenital intellectual disabilities (ID) in Chinese Han children, identifying a specific SNP mutation in the FGF13 gene.
- This SNP reduces the translation of the FGF13 protein, which is crucial for stabilizing nerve structures in developing neurons.
- The mutation leads to impaired neuronal migration, as seen in mice models, resulting in cognitive challenges like weakened learning and memory.
Article Abstract
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 the translation of FGF13, which stabilizes microtubules in developing neurons. Mice carrying the homologous point mutation in 5'-UTR of showed delayed neuronal migration during cortical development, and weakened learning and memory. Furthermore, this SNP reduced the interaction between 5'-UTR and polypyrimidine-tract-binding protein 2 (PTBP2), which was required for translation in cortical neurons. Thus, this 5'-UTR SNP of interferes with the translational process of and causes deficits in brain development and cognitive functions.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8241442 | PMC |
| http://dx.doi.org/10.7554/eLife.63021 | DOI Listing |
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