The majority of variants in RFX3lead to a reduction in the amount of protein produced, suggesting that the clinical features in individuals with RFX3variants may be due to insufficient RFX3 protein levels. RFX3 is found in the brain in a specific type of neuron involved in cognition and social behavior, raising the possibility that deficiency of RFX3 may disrupt either the development, connectivity, or function of this set of neurons.
RFX3