A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Nature Genetics

Volumn 12, Issue 4, 1996, Pages 445-447

  Hofstra, Robert M W ^a   Osinga, Jan ^a   Tan Sindhunata, Gita ^a   Wu, Ying ^a   Kamsteeg, Erik J ^a   Stulp, Rein P ^a   Van Ravenswaaij Arts, Conny ^b   Majoor Krakauer, Daniëlle ^c   Angrist, Misha ^d   Chakravarti, Aravinda ^d   Meijers, Carel ^c   Buys, Charles H C M ^a  

^a UNIVERSITY OF GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 3;

AGANGLIONOSIS; AMINO ACID SUBSTITUTION; ARTICLE; DEPIGMENTATION; EXON; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA; DNA PRIMERS; ENDOTHELINS; FEMALE; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; WAARDENBURG'S SYNDROME;

EID: 0009675716     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0496-445     Document Type: Article

References (17)

1. Romeo, G. et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's Disease. Nature 367, 377-378 (1994).
2. Edery, P. et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367, 378-380 (1994).
3. Puffenberger, E.G. et al A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease Cell 79, 1257-1266 (1994)
4. Baynash, A et al. Interaction of endothelin 3 with endothelin-B receptor is essential for development of epidermal rnelanocytes and enteric neurons Cell 79, 1277-1285 (1994).
5. Omenn, G.S & McKusick, V.A. Association of Waardenburg syndrome and Hirschsprung megacolon Am J Med. Genet 3, 217-223 (1979).
6. Inoue, A. et al The human endothelin family, three structurally and pharmacologically distinct isopeptides predicted by three separate genes Proc. Natl. Acad. Sci. USA 86, 2863-2867 (1989)
7. Xu, D et al A membrane bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1. Cell 78, 473-485 (1994).
8. Farrer, L A. et al. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am. J. Hum. Genet. 55, 728-737 (1994).
9. Tassabehji, M., Newton, V E & Read, A.P Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genet 8, 251-255 (1994).
10. Lane, P.W. Association of megacolon with two recessive spotting genes in mouse. J. Hered. 57, 29-31 (1966).
11. Bolande, R.P. Animal model of human disease: Aganglionic megacolon in piebald and spotted mutant mouse strains. Am. J. Pathol 23, 237-242 (1975)
12. Hosoda, K. et al. Targeted and natural (Piebald-Lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice. Cell 79, 1267-1276 (1994).
13. Attie, T et al. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Hum Molec Genet. 4, 2407-2409 (1995).
14. Yin, L. et al. Heterogeneity and low detection rate of RET mutations in Hirschsprung disease. Eur. J. Hum. Genet. 2, 272-280 (1994).
15. Angrist, M. et al. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. Hum. Molec. Genet 4, 821-830 (1995).
16. Attie, T et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Molec Genet. 4, 1381-1386 (1995).
17. Lane, P.W & Liu, H M. Association of megacolon with a new dominant spotting gene in the mouse. J. Hered 75, 435-439 (1984)