Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/analysis-of-ret-zeb2-edn3-and-gdnf-genomic-rearrangements-in-80-Is7N9IsB25
References (32)
-
Shanske (2001)
Hirschsprung disease in an infant with a contiguous gene syndrome on chromosome 13Am J Med Genet, 102
-
E. Puffenberger, K. Hosoda, S. Washington, K. Nakao, D. Dewit, M. Yanagisawa, A. Chakravarti (1994)
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's diseaseCell, 79
-
S. Fuchs, J. Amiel, Sophie Claudel, S. Lyonnet, P. Corvol, F. Pinet (2001)
Functional Characterization of Three Mutations of the Endothelin B Receptor Gene in Patients With Hirschsprung’s Disease: Evidence for Selective Loss of Gi CouplingMolecular Medicine, 7
-
(2008)
Hirschsprung Disease Consortium -
P. Edery, S. Lyonnet, L. Mulligan, A. Pelet, E. Dow, L. Abel, S. Holder, C. Nihoul-Fékété, B. Ponder, A. Munnich (1994)
Mutations of the RET proto-oncogene in Hirschsprung's diseaseNature, 367
-
J. Amiel, T. Attié, Dominique Jan, Anna elet, P. Edery, C. Bidaud, D. Lacombe, P. Tam, Juliette Simeoni, E. Flori, Claire ékété, Arnold Munnich, S. Lyonnet (1996)
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.Human molecular genetics, 5 3
-
J. Amiel, S. Lyonnet (2001)
Hirschsprung disease, associated syndromes and genetics: a reviewJournal of Medical Genetics, 45
-
A. Shanske, J. Ferreira, E. Attiyeh, R. Marion (1999)
Hirschsprung Disease in an Infant with a Contiguous Gene Syndrome of Chromosome 13Pediatric Research, 45
-
S. Lyonnet, A. Bolino, A. Pelet, L. Abel, C. Nihoul-Fékété, M. Briard, V. Mok-Siu, H. Kååriåinen, G. Martucciello, M. Lerone, A. Puliti, Yin Luo, J. Weissenbach, M. Devoto, Arnold Munnich, Giovanni Romeo (1993)
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10Nature Genetics, 4
-
L. Pontual, A. Pelet, D. Trochet, Francis Jaubert, Yolanda Espinosa-Parrilla, A. Munnich, Jean-François Brunet, Christo Goridis, Josué Feingold, S. Lyonnet, J. Amiel (2005)
Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locusJournal of Medical Genetics, 43
-
P. Chattopadhyay, A. Pakstis, N. Mukherjee, S. Iyengar, A. Odunsi, F. Okonofua, B. Bonné-Tamir, W. Speed, J. Kidd, K. Kidd (2003)
Global survey of haplotype frequencies and linkage disequilibrium at the RET locusEuropean Journal of Human Genetics, 11
-
G. Fitze, Hella Appelt, I. König, H. Görgens, U. Stein, W. Walther, M. Gossen, M. Schreiber, A. Ziegler, D. Roesner, H. Schackert (2003)
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).Human molecular genetics, 12 24
-
M. Garcia-Barcelo, R. Ganster, V. Lui, T. Leon, M. So, Anson Lau, M. Fu, M. Sham, J. Knight, M. Zannini, P. Sham, P. Tam (2005)
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease.Human molecular genetics, 14 2
-
(1996)
Heterozygous endothelin-B receptor -
E. Engenheiro, Rikke Møller, Marta Pinto, G. Soares, Marina Nikanorova, Isabel Carreira, Reinhard Ullmann, Niels Tommerup, Z. Tümer (2008)
Mowat–Wilson syndrome: an underdiagnosed syndrome?Clinical Genetics, 73
-
M. Angrist, S. Bolk, M. Halushka, P. Lapchak, A. Chakravarti (1996)
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patientNature Genetics, 14
-
G. Fitze, J. Cramer, A. Ziegler, M. Schierz, M. Schreiber, E. Kuhlisch*, D. Roesner, H. Schackert (2002)
Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's diseaseThe Lancet, 359
-
V. Heyningen (1994)
One gene—four syndromesNature, 367
-
Yin Luo, I. Ceccherini, B. Pasini, I. Matera, M. Bicocchi, V. Barone, Renata Bocclardi, H. Kääriänen, D. Weber, M. Devoto, Giovanni Romeo (1993)
Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease.Human molecular genetics, 2 11
-
L. Pontual, A. Pelet, M. Clément-Ziza, D. Trochet, S. Antonarakis, T. Attié-Bitach, P. Beales, J. Blouin, F. Moal, H. Dollfus, M. Goossens, N. Katsanis, R. Touraine, J. Feingold, A. Munnich, S. Lyonnet, J. Amiel (2007)
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseHuman Mutation, 28
-
L. Basel‐Vanagaite, A. Pelet, Zvi Steiner, A. Munnich, Y. Rozenbach, M. Shohat, S. Lyonnet (2007)
Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung diseaseEuropean Journal of Human Genetics, 15
-
H. Gregorius (1980)
The probability of losing an allele when diploid genotypes are sampled.Biometrics, 36 4
-
Hirokazu Tanaka, K. Moroi, J. Iwai, Hideyo Takahashi, N. Ohnuma, S. Hori, M. Takimoto, M. Nishiyama, Tomoh Masaki, M. Yanagisawa, S. Sekiya, S. Kimura (1998)
Novel Mutations of the Endothelin B Receptor Gene in Patients with Hirschsprung’s Disease and Their Characterization*The Journal of Biological Chemistry, 273
-
E. Passarge (1993)
Wither polygenic inheritance: Mapping Hirschsprung diseaseNature Genetics, 4
-
G. Camp, M. Thienen, I. Handig, B. Roy, V. Rao, A. Milunsky, A. Read, C. Baldwin, L. Farrer, M. Bonduelle (1995)
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.Journal of Medical Genetics, 32
-
J. Schouten, C. Mcelgunn, Raymond Waaijer, D. Zwijnenburg, Filip Diepvens, G. Pals (2002)
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.Nucleic acids research, 30 12
-
S. Gabriel, R. Salomon, A. Pelet, M. Angrist, J. Amiel, M. Fornage, T. Attié-Bitach, J. Olson, R. Hofstra, C. Buys, J. Steffann, A. Munnich, S. Lyonnet, A. Chakravarti (2002)
Segregation at three loci explains familial and population risk in Hirschsprung diseaseNature Genetics, 31
-
E. Emison, A. McCallion, C. Kashuk, R. Bush, E. Grice, Shin Lin, M. Portnoy, D. Cutler, E. Green, A. Chakravarti (2005)
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease riskNature, 434
-
R. Salomon, T. Attié, A. Pelet, C. Bidaud, C. Eng, J. Amiel, S. Sarnacki, O. Goulet, C. Ricour, C. Nihoul-Fékété, A. Munnich, S. Lyonnet (1996)
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung diseaseNature Genetics, 14
-
G. Martucciello, H. Thompson, C. Mazzola, A. Morando, M. Bertagnon, F. Negri, A. Brizzolara, L. Rocchetti, C. Gambini, V. Jasonni (1998)
GDNF deficit in Hirschsprung's disease.Journal of pediatric surgery, 33 1
-
J. Dunnen, S. White (2006)
MLPA and MAPH: Sensitive Detection of Deletions and DuplicationsCurrent Protocols in Human Genetics, 51
-
T. Kusafuka, Yiping Wang, P. Puri (1996)
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.Human molecular genetics, 5 3
- Publisher
- Wiley
- Copyright
- Copyright © 2009 Wiley Subscription Services
- ISSN
- 0003-4800
- eISSN
- 1469-1809
- DOI
- 10.1111/j.1469-1809.2008.00503.x
- pmid
- 19183406
- Publisher site
- See Article on Publisher Site
Abstract
Hirschsprung disease (HSCR) is transmitted in a complex pattern of inheritance and is mostly associated with variants in the RET proto‐oncogene. However, RET mutations are only identified in 15–20% of sporadic HSCR cases and solely in 50% of the familial cases. Since genomic rearrangements in particularly sensitive areas of the RET proto‐oncogene and/or associated genes may account for the HSCR phenotype in patients without other detectable RET variants, the aim of the present study was to identify rearrangements in the coding sequence of RET as well as in three HSCR‐associated genes (ZEB2, EDN3 and GDNF) in HSCR patients by using Multiplex Ligation‐dependent Probe Amplification (MLPA). We have screened 80 HSCR patients for genomic rearrangements in RET, ZEB2, EDN3 and GDNF and did not identify any deletion or amplification in these four genes in all patients. We conclude that genomic rearrangements in RET are rare and were not responsible for the HSCR phenotype in individuals without identifiable germline RET variants in our group of patients, yet this possibility cannot be excluded altogether because the confidence to identify variation in at least two percent of the individuals was only 95%.
Journal
Annals of Human Genetics – Wiley
Published: Jan 1, 2009
Keywords: ; ; ;