Disruption or deletion of CTCF-associated insulators have been described in human disease such as loss of function of the DM1 insulator in myotonic dystrophy, and chromosomal deletions or translocations of regions containing CTCF binding sites in Beckwith-Wiedemann syndrome, Wilms’ tumor, and other various cancers.[44, 48] Perturbation of associated cis-sequences regulating their binding are another predicted mechanism of disease, [49, 50] as shown in a subset of cases of hereditary spherocytosis.[51]. Here, CTCF is linked to Beckwith-Wiedemann syndrome.