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PMID:8630502
| Citation |
Edery, P, Attié, T, Amiel, J, Pelet, A, Eng, C, Hofstra, RM, Martelli, H, Bidaud, C, Munnich, A and Lyonnet, S (1996) Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome). Nat. Genet. 12:442-4 |
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| 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. |
| Links |
PubMed Online version:10.1038/ng0496-442 |
| Keywords |
Amino Acid Sequence; Animals; Base Sequence; Child, Preschool; DNA/genetics; Endothelins/genetics; Endothelins/physiology; Female; Genes, Recessive; Hirschsprung Disease/complications; Hirschsprung Disease/etiology; Hirschsprung Disease/genetics; Homozygote; Humans; Male; Mice; Molecular Sequence Data; Mutation; Neural Crest/growth & development; Phenotype; Waardenburg's Syndrome/complications; Waardenburg's Syndrome/etiology; Waardenburg's Syndrome/genetics |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
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involved_in |
GO:0007275: multicellular organism development |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
See also
References
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