EDNRB


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EDNRB

A gene on chromosome 13q22 that encodes endothelin-B receptor, a member of the endothelin receptor group of G-protein-coupled
receptors, located primarily in the vascular endothelial cells where they play a role in vasoconstriction, vasodilation, bronchoconstriction and cell proliferation.

Molecular pathology
EDNRB mutations cause Hirschsprung disease type 2.
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Approximately 23 mutation have been reported in EDNRB gene so far (Lin et al.
The association of EDNRB mutations with WS4 was also revealed in a study of a large Mennonite femaily (Puffenberger et al.
2010) revealed their observations that among the EDNRB homozygous (or compound heterozygous, either proved or suspected) cases, about 70% seemed to segregate with a fully recessive transmission, whereas in the remaining families, some heterozygous relatives present with isolated HD, constipation or depigmentation features.
The percentage of LSA/TCA patients harboring mutations was quite similar to that of SSA patients with mutations, probably because EDNRB mutations are more frequently associated with SSA (1).
In addition, the fact that mutations leading to disease are inherited from unaffected parents indicates that the HSCR phenotype results from interaction of several genes and/or modifiers, as has been demonstrated with genes of the RET and EDNRB pathways (20, 21, 28, 29).
Each of the genes coding for protein components of the RET and EDNRB signaling pathways is to be considered a HSCR candidate gene, contributing to HSCR on its own or in combination.