NSD1 and Sotos syndrome: In 2002, positional cloning in a Sotos syndrome individual with a balanced translocation, t(5;8)(q35;q24.1), resulted in the identification of a nuclear receptor binding SET domain protein 1 (NSD1) located at the 5q35 breakpoint as a causative gene, and early studies have shown that haploinsufficiency of NSD1 is the underlying cause of this syndrome [9,10].