Figure 3. Mutations in CTCF related to neurological syndromes.

Multiple mutations including deletions have been reported for CTCF. These genetic perturbations are linked to numerous neurological manifestations. Genetic variants impacting CTCF binding sites associate with several disorders including neurological diseases. The predicted impact of the mutations in ZFs of CTCF on its 3D protein structure and the inferred possible effects on CTCF binding to chromatin.