title: Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease.
abstract: 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.
authors.affiliation: Children's Research Centre, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
authors.forename: T
authors.initials: T
authors.lastname: Kusafuka
authors.forename: P
authors.initials: P
authors.lastname: Puri
mesh_terms: D000818:Animals; D019334:Endothelin-3 / Q000235:genetics*; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D009154:Mutation; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics
chemical_list: D019334:Endothelin-3; D044023:Receptor, Endothelin B; D017466:Receptors, Endothelin