Skip Navigation

This Article
Right arrow Full Text 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 (80)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Doray, B.
Right arrow Articles by Lyonnet, S.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Doray, B.
Right arrow Articles by Lyonnet, S.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 7, 1449-1452, Copyright © 1998 by Oxford University Press

ARTICLES

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

B Doray, R Salomon, J Amiel, A Pelet, R Touraine, M Billaud, T Attie, B Bachy, A Munnich and S Lyonnet
Unite de Recherches sur les Handicaps Genetiques de l'Enfant, INSERM U393, Paris, France.

Hirschsprung disease (HSCR) is a frequent neurocristopathy characterized by the absence of submucosal and myenteric plexuses in a variable length of the gastrointestinal tract. Pedigrees and segregation analyses suggested the involvement of one or several dominant genes with low penetrance in HSCR. Considering that RET and glial cell line-derived neurotrophic factor (GDNF) mutations have been reported in the disease, we regarded the other RET ligand, neurturin (NTN), as an attractive candidate gene, especially as it shares large homologies with GDNF. Here, we report on the finding of a heterozygous missense NTN mutation in a large non-consanguineous family including four children affected with a severe aganglionosis phenotype extending up to the small intestine. Interestingly, it appears that the NTN mutation reported here is not sufficient to cause HSCR, and this multiplex family also segregates a RET mutation. This cascade of independent and additive genetic events fits well with the multigenic pattern of inheritance expected in HSCR, and further support the role of RET ligands in development of the enteric nervous system.
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
 J. Med. Genet.Home page
A S Brooks, P A Leegwater, G M Burzynski, P J Willems, B de Graaf, I van Langen, P Heutink, B A Oostra, R M W Hofstra, and A M Bertoli-Avella
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
J. Med. Genet., July 1, 2006; 43(7): e35 - e35.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
V. A. Cantrell, S. E. Owens, R. L. Chandler, D. C. Airey, K. M. Bradley, J. R. Smith, and E. M. Southard-Smith
Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease
Hum. Mol. Genet., October 1, 2004; 13(19): 2289 - 2301.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
G. Fitze, H. Appelt, I. R. Konig, H. Gorgens, U. Stein, W. Walther, M. Gossen, M. Schreiber, A. Ziegler, D. Roesner, et al.
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)
Hum. Mol. Genet., December 15, 2003; 12(24): 3207 - 3214.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Sci.Home page
H. Sariola and M. Saarma
Novel functions and signalling pathways for GDNF
J. Cell Sci., October 1, 2003; 116(19): 3855 - 3862.
[Abstract] [Full Text] [PDF]

Home page
 GutHome page
M Garcia-Barcelo, M H Sham, V C H Lui, B L S Chen, J Ott, and P K H Tam
Association study of PHOX2B as a candidate gene for Hirschsprung's disease
Gut, April 1, 2003; 52(4): 563 - 567.
[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
 Proc. Natl. Acad. Sci. USAHome page
A. S. McCallion, E. Stames, R. A. Conlon, and A. Chakravarti
Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb
PNAS, February 18, 2003; 100(4): 1826 - 1831.
[Abstract] [Full Text] [PDF]

Home page
 Endocr. Rev.Home page
H. Chang, C. W. Brown, and M. M. Matzuk
Genetic Analysis of the Mammalian Transforming Growth Factor-{beta} Superfamily
Endocr. Rev., December 1, 2002; 23(6): 787 - 823.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
C. Paratore, C. Eichenberger, U. Suter, and L. Sommer
Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease
Hum. Mol. Genet., November 15, 2002; 11(24): 3075 - 3085.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
R M W Hofstra, P Elfferich, J Osinga, E Verlind, E Fransen, J Lopez Pison, C E M de Die-Smulders, I Stolte-Dijkstra, and C H C M Buys
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations?
J. Med. Genet., March 1, 2002; 39(3): e11 - 11.
[Full Text]

Home page
 Hum Mol GenetHome page
S. Eketjall and C. F. Ibanez
Functional characterization of mutations in the GDNF gene of patients with Hirschsprung disease
Hum. Mol. Genet., February 1, 2002; 11(3): 325 - 329.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
A. Koziell, V. Grech, S. Hussain, G. Lee, U. Lenkkeri, K. Tryggvason, and P. Scambler
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
Hum. Mol. Genet., February 1, 2002; 11(4): 379 - 388.
[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
 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
 Hum Mol GenetHome page
V. Cacheux, F. Dastot-Le Moal, H. Kaariainen, N. Bondurand, R. Rintala, B. Boissier, M. Wilson, D. Mowat, and M. Goossens
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
Hum. Mol. Genet., July 1, 2001; 10(14): 1503 - 1510.
[Abstract] [Full Text] [PDF]

Home page
 GutHome page
R P Kapur
Developmental disorders of the enteric nervous system
Gut, December 1, 2000; 47(90004): iv81 - 83.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
J. R Hansford and L. M Mulligan
Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis
J. Med. Genet., November 1, 2000; 37(11): 817 - 827.
[Abstract] [Full Text]

Home page
 J. Med. Genet.Home page
C. Scharfe, M. Hauschild, T. Klopstock, A. J M Janssen, P. H Heidemann, T. Meitinger, and M. Jaksch
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.
J. Med. Genet., September 1, 2000; 37(9): 669 - 673.
[Abstract] [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
 DevelopmentHome page
S Taraviras, C. Marcos-Gutierrez, P Durbec, H Jani, M Grigoriou, M Sukumaran, L. Wang, M Hynes, G Raisman, and V Pachnis
Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system
Development, January 6, 1999; 126(12): 2785 - 2797.
[Abstract] [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.