In humans, CHD7 has been identified as the primary causative gene in the development of CHARGE syndrome, a complex disorder of multiple birth defects varying in severity and presentation, with up to 80% of patient cohorts presenting with a heterozygous loss-of-function mutation in the gene (Bergman et al., 2011; Blake and Prasad, 2006; Vissers et al., 2004). This evidence concerns the gene CHD7 and CHARGE syndrome.