SOX10 and Hirschsprung disease: Second, dominant-negative SOX10 mutations cause an autosomal dominant disease characterized by peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg-Shah syndrome, and Hirschsprung disease [7, 8]; the non-PNS phenotypes reflect the role of SOX10 in other neural crest derivatives (i.e., melanocytes and enteric neurons) and in oligodendrocytes.