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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3,4) Most cases with classic HSCR show numerous prominent nerves (>40 [micro]m diameter) in the submucosa (Figure 6, a).
In HSCR cases, staining is completely absent (Figure 6, d).
Our case is an example of total colonic aganglionosis (TCA), which is estimated to comprise about 2% to 10% of all HSCR cases.
Establishing the diagnosis of HSCR should be strongly avoided during intraoperative procedures on suction biopsies owing to the produced artifact, time limitation, and inability to obtain the appropriate number of levels to examine.
If the main HSCR genes harbor more severe mutations (more frequent in LSA/TCA), the effect of gender-specific modifiers on the phenotype would be diminished, explaining the diminished gender bias in sporadic LSA-HSCR.
A missense mutation affecting the same codon (P383L) is known to be responsible for the HSCR phenotype (17).
A17T was previously identified as a mutation in a nonsyndromic sporadic HSCR patient (22).
It is worthwhile noting that at least two EDNRB and EDN3 mutations previously described in isolated HSCR (14,17, 22) have recently been observed in healthy individuals of different ethnic origins [(44) and this study].
The frequencies of these associated alleles were significantly higher than those reported in other populations, including those of the controls, which may explain the higher incidence of HSCR in Asians.
Interestingly, a nucleotide substitution, also affecting codon 93 (R93W), was identified as a GDNF familial mutation leading to HSCR in conjunction with a RET mutation (23).
Twenty patients had at least one mutation in the genes investigated, representing 24% of the total number of HSCR patients studied.
Seven of 12 (58%) of the RET mutations were de novo, which reaffirmed the pathogenic role of RET in sporadic HSCR.