Heterozygous endothelin receptor B (EDNRB) 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; Stanislas Lyonnet

doi:10.1093/hmg/5.3.355

Heterozygous endothelin receptor B (EDNRB) 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, Stanislas Lyonnet

Research output: Contribution to journal › Article › peer-review

171 Scopus citations

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.

Original language	English (US)
Pages (from-to)	355-357
Number of pages	3
Journal	Human molecular genetics
Volume	5
Issue number	3
DOIs	https://doi.org/10.1093/hmg/5.3.355
State	Published - Mar 1996
Externally published	Yes

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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@article{05d5e1546caf46b28e33f45ef93d9c32,

title = "Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease",

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.",

author = "Jeanne Amiel and Tania Atti{\'e} and Dominique Jan and Anna Pelet and Patrick Edery and Christelle Bidaud and Didier Lacombe and Paul Tam and Juliette Simeoni and Elisabeth Flori and Claire Nihoul-F{\'e}k{\'e}t{\'e} and Arnold Munnich and Stanislas Lyonnet",

note = "Funding Information: We thank D. Burge and M. Griffiths (Department of Paediatric Surgery, Southampton, UK), for referring their patients. This study was supported by the Association pour la Recherche contre le Cancer (ARC) and the D{\'e}l{\'e}gation {\`a} la Recherche Clinique (DRC, AP-HP). JA and TA are recipients of a fellowship from the Association pour la Recherche contre le Cancer (ARC) and the Fondation pour la Recherche M{\'e}dicale (FRM), respectively.",

year = "1996",

month = mar,

doi = "10.1093/hmg/5.3.355",

language = "English (US)",

volume = "5",

pages = "355--357",

journal = "Human molecular genetics",

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TY - JOUR

T1 - Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

AU - Amiel, Jeanne

AU - Attié, Tania

AU - Jan, Dominique

AU - Pelet, Anna

AU - Edery, Patrick

AU - Bidaud, Christelle

AU - Lacombe, Didier

AU - Tam, Paul

AU - Simeoni, Juliette

AU - Flori, Elisabeth

AU - Nihoul-Fékété, Claire

AU - Munnich, Arnold

AU - Lyonnet, Stanislas

N1 - Funding Information: We thank D. Burge and M. Griffiths (Department of Paediatric Surgery, Southampton, UK), for referring their patients. This study was supported by the Association pour la Recherche contre le Cancer (ARC) and the Délégation à la Recherche Clinique (DRC, AP-HP). JA and TA are recipients of a fellowship from the Association pour la Recherche contre le Cancer (ARC) and the Fondation pour la Recherche Médicale (FRM), respectively.

PY - 1996/3

Y1 - 1996/3

N2 - 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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Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

Abstract

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