Journal Article

Heterozygous Endothelin Receptor B (<i>EDNRB</i>Mutations in Isolated Hirschsprung Disease

Jeanne Amiel, Tania Attié, Dominique Jan, Anna Pelet, Patrick Edery, Christelle Bidaud, Didier Lacombe, Paul Tam, Juliette Simeoni, Elisabeth Flori, Claire Nihoul-Fékété, Arnold Munnich and Stanislas Lyonnet

in Human Molecular Genetics

Volume 5, issue 3, pages 355-357
Published in print March 1996 | ISSN: 0964-6906
e-ISSN: 1460-2083 | DOI:
Heterozygous Endothelin Receptor B (EDNRBMutations in Isolated Hirschsprung Disease

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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.

Journal Article.  1755 words.  Illustrated.

Subjects: Genetics and Genomics

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