to see whether the mutated RNA is translated into protein, but Western blots have so far not been reported for these patients. Recently, the expression of the ADNP gene was reported to be auto-regulated by a negative feedback loop mechanism [Oz et al., 2012]. Hence, a plausible explanation for the observed overexpression in the cell lines of the patients is the inability of the mutant protein to bind to its own promoter region, resulting in a homeostatic correction by up regulation of transcription.
