The S0X10 (sex determining region Y-box) gene is expressed in neuronal crest derivates that contribute to the formation of the peripheral nervous system during embryogenesis [76, 77]. The involvement of S0X10 in the development of enteric neurons was demonstrated in the Dom (dominant megacolon) mouse model of Hirschsprung's disease which exhibits distal intestinal aganglionosis . Mutations in S0X10 have been identified as a cause of the dominant megacolon mouse and Waardenburg-Shah syndrome in humans, both of which include defects in the ENS and pigmentation abnormalities [78, 79].
Was this article helpful?
This guide will help millions of people understand this condition so that they can take control of their lives and make informed decisions. The ebook covers information on a vast number of different types of neuropathy. In addition, it will be a useful resource for their families, caregivers, and health care providers.