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Human Molecular Genetics, Vol 5, 355-357, Copyright © 1996 by Oxford University Press

ARTICLES

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

J Amiel, T Attie, D Jan, A Pelet, P Edery, C Bidaud, D Lacombe, P Tam, J Simeoni, E Flori, C Nihoul-Fekete, A Munnich and S Lyonnet
Service de Genetique Medicale and Clinique Chirurgicale Infantile, Unite de Recherches sur les Handicaps Genetiques de l'Enfant INSERM U- 393, Paris, France.

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.
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