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Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
Eur J Hum Genet. 1997 Jul-Aug; 5(4):247-51.EJ

Abstract

Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Four susceptibility genes have recently been identified in HSCR, namely the RET proto-oncogene, the glial cell line-derived neurotrophic factor (GDNF), the endothelin B receptor (EDNRB) and the endothelin-3 genes (EDN3). Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome. Here, we report on heterozygous EDN3 missense mutations in isolatec HSCR. The present data give further support to the role of the endothelin signaling pathway in the development of neural crest-derived enteric neurons. They also suggest the possibility that either recessive or weakly penetrant dominant alleles could occur at the EDN3 locus, depending on the nature of the mutation.

Authors+Show Affiliations

INSERM U-393, Département de Gńétique, and Clinique Chirurgicale Infantile, Hôpital des Enfants-Malades, Paris, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9359047

Citation

Bidaud, C, et al. "Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease." European Journal of Human Genetics : EJHG, vol. 5, no. 4, 1997, pp. 247-51.
Bidaud C, Salomon R, Van Camp G, et al. Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. Eur J Hum Genet. 1997;5(4):247-51.
Bidaud, C., Salomon, R., Van Camp, G., Pelet, A., Attié, T., Eng, C., Bonduelle, M., Amiel, J., Nihoul-Fékété, C., Willems, P. J., Munnich, A., & Lyonnet, S. (1997). Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. European Journal of Human Genetics : EJHG, 5(4), 247-51.
Bidaud C, et al. Endothelin-3 Gene Mutations in Isolated and Syndromic Hirschsprung Disease. Eur J Hum Genet. 1997 Jul-Aug;5(4):247-51. PubMed PMID: 9359047.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease. AU - Bidaud,C, AU - Salomon,R, AU - Van Camp,G, AU - Pelet,A, AU - Attié,T, AU - Eng,C, AU - Bonduelle,M, AU - Amiel,J, AU - Nihoul-Fékété,C, AU - Willems,P J, AU - Munnich,A, AU - Lyonnet,S, PY - 1997/7/1/pubmed PY - 1997/11/14/medline PY - 1997/7/1/entrez SP - 247 EP - 51 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 5 IS - 4 N2 - Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Four susceptibility genes have recently been identified in HSCR, namely the RET proto-oncogene, the glial cell line-derived neurotrophic factor (GDNF), the endothelin B receptor (EDNRB) and the endothelin-3 genes (EDN3). Homozygosity for EDN3 mutations has been previously shown to cause the Shah-Waardenburg syndrome, a combination of HSCR with features of the Waardenburg syndrome. Here, we report on heterozygous EDN3 missense mutations in isolatec HSCR. The present data give further support to the role of the endothelin signaling pathway in the development of neural crest-derived enteric neurons. They also suggest the possibility that either recessive or weakly penetrant dominant alleles could occur at the EDN3 locus, depending on the nature of the mutation. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/9359047/Endothelin_3_gene_mutations_in_isolated_and_syndromic_Hirschsprung_disease_ L2 - https://biocyc.org/gene?orgid=HUMAN&id=HS04734 DB - PRIME DP - Unbound Medicine ER -