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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
Nat Genet. 1996 Apr; 12(4):442-4.NGen

Abstract

Hirschsprung disease (HSCR) and Waardenburg sundrome (WS) are congenital malformations regarded as neurocristopathies since both disorders involve neural crest-derived cells. The WS-HSCR association (Shah-Waardenburg syndrome) is a rare autosomal recessive condition that occasionally has been ascribed to mutations of the endothelin-receptor B (EDNRB) gene. WS-HSCR mimicks the megacolon and white coat-spotting observed in Ednrb mouse mutants. Since mouse mutants for the EDNRB ligand, endothelin-3 (EDN3), displayed a similar phenotype, the EDN3 gene was regarded as an alternative candidate gene in WS-HSCR. Here, we report a homozygous substitution/deletion mutation of the EDN3 gene in a WS-HSCR patient. EDN3 thus becomes the third known gene (after RET and EDNRB) predisposing to HSCR, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests.

Authors+Show Affiliations

Service de Génétique Médicale et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, 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 available

Pub Type(s)

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

Language

eng

PubMed ID

8630502

Citation

Edery, P, et al. "Mutation of the Endothelin-3 Gene in the Waardenburg-Hirschsprung Disease (Shah-Waardenburg Syndrome)." Nature Genetics, vol. 12, no. 4, 1996, pp. 442-4.
Edery P, Attié T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat Genet. 1996;12(4):442-4.
Edery, P., Attié, T., Amiel, J., Pelet, A., Eng, C., Hofstra, R. M., Martelli, H., Bidaud, C., Munnich, A., & Lyonnet, S. (1996). Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nature Genetics, 12(4), 442-4.
Edery P, et al. Mutation of the Endothelin-3 Gene in the Waardenburg-Hirschsprung Disease (Shah-Waardenburg Syndrome). Nat Genet. 1996;12(4):442-4. PubMed PMID: 8630502.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). AU - Edery,P, AU - Attié,T, AU - Amiel,J, AU - Pelet,A, AU - Eng,C, AU - Hofstra,R M, AU - Martelli,H, AU - Bidaud,C, AU - Munnich,A, AU - Lyonnet,S, PY - 1996/4/1/pubmed PY - 1996/4/1/medline PY - 1996/4/1/entrez SP - 442 EP - 4 JF - Nature genetics JO - Nat Genet VL - 12 IS - 4 N2 - Hirschsprung disease (HSCR) and Waardenburg sundrome (WS) are congenital malformations regarded as neurocristopathies since both disorders involve neural crest-derived cells. The WS-HSCR association (Shah-Waardenburg syndrome) is a rare autosomal recessive condition that occasionally has been ascribed to mutations of the endothelin-receptor B (EDNRB) gene. WS-HSCR mimicks the megacolon and white coat-spotting observed in Ednrb mouse mutants. Since mouse mutants for the EDNRB ligand, endothelin-3 (EDN3), displayed a similar phenotype, the EDN3 gene was regarded as an alternative candidate gene in WS-HSCR. Here, we report a homozygous substitution/deletion mutation of the EDN3 gene in a WS-HSCR patient. EDN3 thus becomes the third known gene (after RET and EDNRB) predisposing to HSCR, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8630502/Mutation_of_the_endothelin_3_gene_in_the_Waardenburg_Hirschsprung_disease__Shah_Waardenburg_syndrome__ L2 - https://doi.org/10.1038/ng0496-442 DB - PRIME DP - Unbound Medicine ER -