Fragile X Syndrome Patient-Derived Neurons Developing in the Mouse Brain Show FMR1-Dependent Phenotypes

Fragile X syndrome (FXS) is the most commonly inherited form of developmental and intellectual disability. Here, we used a new approach, i.e. neurons derived from FXS patients and transplanted in the mouse brain, to study this disease. It provided new insights into the development of FXS neurons, by facilitating their development in a 3D context: we found that FXS neurons had an altered maturation process, and our data suggest that their synapses might be hyperactive. Overall design: Comparative gene expression profiling analysis of RNA-seq data for FXS cells and their isogenic controls..