ISSN:
1437-9813
Keywords:
Key words Hirschsprung’s disease
;
Endothelin-B receptor gene
;
Endothelin-3 gene
;
Mutation
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract The endothelin-B receptor gene (EDNRB) and the endothelin-3 gene (EDN3) have recently been recognized as susceptibility genes for Hirschsprung’s disease (HD). Novel EDNRB mutations have been detected in non-syndromic HD patients with heterozygous forms, and homozygous mutations of the EDNRB or the EDN3 genes have been reported in HD patients associated with type 2 Waardenburg syndrome. These observations confirm that impaired function of the endothelin-B receptor or endothelin-3 is involved in the aetiology of some human HD cases. EDNRB mutations appear to be associated with short-segment HD, in contrast to RET mutations, which are found mainly in long-segment aganglionosis.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01194795
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