In the Hry model of Waardenburg syndrome type IV, Sox10 expression is strongly downregulated owing to transgene-insertion-mediated deletion of a strong enhancer (Antonellis et al., 2006), a mechanism that has subsequently been reported to occur in humans as well (Bondurand et al., 2012; Lecerf et al., 2014). This evidence concerns the gene SOX10 and Waardenburg-Shah syndrome.