ERC1 and Koolen-de Vries syndrome: Some of these CNVs have drawn attention to possible genes in the pathogenesis of CAS such as 18q12.3 microdeletions encompassing SETBP1 [22], 12p13.33 microdeletions including ELKS/ERC1 [23], 2p15-p16.1 microdeletions encompassing and proximal to BCL11A [24], 7q11.23 duplication syndrome [25] implicating a number of genes and 17q21.31 deletion or Koolen-de Vries syndrome encompassing KANSL1 [26].