Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (72)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Auricchio, A.
Right arrow Articles by Ballabio, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Auricchio, A.
Right arrow Articles by Ballabio, A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 5, 351-354, Copyright © 1996 by Oxford University Press

ARTICLES

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

A Auricchio, G Casari, A Staiano and A Ballabio
Telethon Institute of Genetics and Medicine (Tigem), San Raffaele Biomedical Science Park, Milan, Italy.

Hirschsprung disease (HSCR), or aganglionic megacolon, is the most common cause of congenital intestinal obstruction. Two different loci have been found to be tightly linked to HSCR on chromosomes 10 and 13, respectively. Recently, mutations in the RET protooncogene on chromosome 10q11.2 were identified in several HSCR patients. In addition, a missense mutation in the endothelin-B receptor (EDNRB) gene on chromosome 13q22 was found in an inbred Mennonite kindred affected by HSCR and associated abnormalities, demonstrating the involvement of EDNRB in HSCR pathogenesis. To test whether mutations in the EDNRB gene could account for Hirschsprung in patients from non-inbred populations, we analysed DNA samples from 17 probands of Italian origin with HSCR. We have identified two novel EDNRB mutations: a missense mutation in a sporadic case, S305N, which leads to a change of a serine to an asparagine, disrupting a putative phosphorylation site; and a single nucleotide deletion in a familial case, N378I, resulting in a truncated protein. Both mutations were found in one of the healthy parents, and neither of these mutations were found in any of the normal individuals tested. These data confirm the involvement of EDNRB in HSCR pathogenesis and demonstrate that EDNRB mutations could contribute to HSCR disease in non-inbred populations.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Med. Genet.Home page
J Amiel, E Sproat-Emison, M Garcia-Barcelo, F Lantieri, G Burzynski, S Borrego, A Pelet, S Arnold, X Miao, P Griseri, et al.
Hirschsprung disease, associated syndromes and genetics: a review
J. Med. Genet., January 1, 2008; 45(1): 1 - 14.
[Abstract] [Full Text] [PDF]

Home page
 JNCI J Natl Cancer InstHome page
R. K. Thirumaran, A. Thoelke, S. Ugurel, K. Hemminki, D. Schadendorf, and R. Kumar
Re: association between endothelin receptor B nonsynonymous variants and melanoma risk.
J Natl Cancer Inst, September 6, 2006; 98(17): 1252 - 1253.
[Full Text] [PDF]

Home page
 JNCI J Natl Cancer InstHome page
N. Soufir, R. Meziani, J.-J. Lacapere, G. Bertrand, F. Fumeron, A. Bourillon, B. Gerard, V. Descamps, B. Crickx, L. Ollivaud, et al.
Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk
J Natl Cancer Inst, September 7, 2005; 97(17): 1297 - 1301.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
S Borrego, R M Fernandez, H Dziema, A Niess, M Lopez-Alonso, G Antinolo, and C Eng
Investigation of germline GFRA4 mutations and evaluation of the involvement of GFRA1, GFRA2, GFRA3, and GFRA4 sequence variants in Hirschsprung disease
J. Med. Genet., March 1, 2003; 40(3): e18 - 18.
[Full Text] [PDF]

Home page
 GutHome page
G B T von Boyen, H-J Krammer, A Suss, C Dembowski, H Ehrenreich, and T Wedel
Abnormalities of the enteric nervous system in heterozygous endothelin B receptor deficient (spotting lethal) rats resembling intestinal neuronal dysplasia
Gut, September 1, 2002; 51(3): 414 - 419.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
A. Tanoue, T.-a. Koshimizu, M. Tsuchiya, K. Ishii, M. Osawa, M. Saeki, and G. Tsujimoto
Two Novel Transcripts for Human Endothelin B Receptor Produced by RNA Editing/Alternative Splicing from a Single Gene
J. Biol. Chem., August 30, 2002; 277(36): 33205 - 33212.
[Abstract] [Full Text] [PDF]

Home page
 QJMHome page
D.E. Newby, F.E. Strachan, and D.J. Webb
Abnormal endothelin B receptor vasomotor responses in patients with Hirschsprung's disease
QJM, March 1, 2002; 95(3): 159 - 163.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J. Amiel and S. Lyonnet
Hirschsprung disease, associated syndromes, and genetics: a review
J. Med. Genet., November 1, 2001; 38(11): 729 - 739.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M. Bahuau, A. Pelet, D. Vidaud, T. Lamireau, B. Le Bail, A. Munnich, M. Vidaud, S. Lyonnet, and D. Lacombe
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric phenotype
J. Med. Genet., September 1, 2001; 38(9): 638 - 643.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
M. H. Sham, V. C. H. Lui, B. L. S. Chen, M. Fu, and P. K. H. Tam
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
J. Med. Genet., September 1, 2001; 38(9): e30 - 30.
[Full Text] [PDF]

Home page
 GutHome page
M H Sham, V C H Lui, M Fu, B Chen, and P K H Tam
SOX10 is abnormally expressed in aganglionic bowel of Hirschsprung's disease infants
Gut, August 1, 2001; 49(2): 220 - 226.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
V. PINGAULT, N. BONDURAND, N. LEMORT, M. SANCANDI, I. CECCHERINI, J.-P. HUGOT, P.-S. JOUK, and M. GOOSSENS
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
J. Med. Genet., March 1, 2001; 38(3): 205 - 209.
[Full Text]

Home page
 J. Med. Genet.Home page
S. Borrego, A. Ruiz, M. E. Saez, O. Gimm, X. Gao, M. López-Alonso, A. Hernández, F. A Wright, G. Antiñolo, and C. Eng
RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease
J. Med. Genet., August 1, 2000; 37(8): 572 - 578.
[Abstract] [Full Text]

Home page
 J. Med. Genet.Home page
M. COSTA, M. FAVA, M. SERI, R. CUSANO, M. SANCANDI, P. FORABOSCO, M. LERONE, G. MARTUCCIELLO, G. ROMEO, and I. CECCHERINI
Evaluation of the HOX11L1 gene as a candidate for congenital disorders of intestinal innervation
J. Med. Genet., July 1, 2000; 37(7): 9e - 9.
[Full Text]

Home page
 J. Med. Genet.Home page
M. BAHUAU, I. LAURENDEAU, A. PELET, B. ASSOULINE, T. LAMIREAU, L. TAINE, B. LE BAIL, P. VERGNES, S. GALLET, M. VIDAUD, et al.
Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B)
J. Med. Genet., February 1, 2000; 37(2): 146 - 150.
[Full Text]

Home page
 J. Med. Genet.Home page
A. S Brooks, M. H Breuning, J. Osinga, J. J v. Smagt, C. E Catsman, C. H C M Buys, C. Meijers, and R. M W Hofstra
A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)
J. Med. Genet., June 1, 1999; 36(6): 485 - 489.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
H. Tanaka, K. Moroi, J. Iwai, H. Takahashi, N. Ohnuma, S. Hori, M. Takimoto, M. Nishiyama, T. Masaki, M. Yanagisawa, et al.
Novel Mutations of the Endothelin B Receptor Gene in Patients with Hirschsprung's Disease and Their Characterization
J. Biol. Chem., May 1, 1998; 273(18): 11378 - 11383.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
M. Roos, V. Soskic, S. Poznanovic, and J. Godovac-Zimmermann
Post-translational Modifications of Endothelin Receptor B from Bovine Lungs Analyzed by Mass Spectrometry
J. Biol. Chem., January 9, 1998; 273(2): 924 - 931.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
C. Eng
The RET Proto-Oncogene in Multiple Endocrine Neoplasia Type 2 and Hirschsprung's Disease
N. Engl. J. Med., September 26, 1996; 335(13): 943 - 951.
[Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.