CTCF and Facioscapulohumeral dystrophy: In addition to the variants detected in known FSHD-causing genes, the present work highlighted the presence of six variants in five genes (CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1), which have been involved in the context of FSHD pathogenesis, although no variant has been described in any of them in FSHD patients.