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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.

The endothelin-B receptor gene (EDNRB) and the endothelin-3 gene ( EDN3) have recently been recognized as susceptibility genes for Hirschsprung's disease (HD). Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome. These observations confirm that impaired function of the endothelin-B receptor or endothelin-3 is involved in the aetiology of some human HD cases. EDNRB mutations appear to be associated with short-segment HD, in contrast to RET mutations, which are found mainly in long-segment aganglionosis.[1]


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