Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Hum Mol Genet. 1996 Mar;5(3):355-7.

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

Author information

  • 1Service de Génétique Médicale and Clinique Chirurgicale Infantile, Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Paris, France.

Abstract

Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutations accounted for the HSCR-Waardenburg syndrome (WS) association. Here, we report heterozygous EDNRB missense mutations (G57S, R319W and P383L) in isolated HSCR. These data might suggest that EDNRB mutations could be dosage sensitive: heterozygosity would predispose to isolated HSCR with incomplete penetrance, while homozygosity would result in more complex neurocristopathies associating HSCR and WS features. In addition, the present data give further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons.

PMID:
8852660
[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk