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A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
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EDITOR
Hirschsprung disease and Waardenburg
syndrome are congenital malformations involving neural crest
derivatives. Several genes are involved in these diseases, defining a
complex pattern of inheritance. Hirschsprung disease (HSCR) is
characterised by the absence of intramural ganglia in the distal bowel.
This lack of enteric innervation results in intestinal obstruction or
severe constipation. The incidence of HSCR is 1 per 5000 live births and both genetic and environmental factors are thought to contribute to
the phenotype. The mode of inheritance is dominant in some families and
recessive or multifactorial in others.1 In a number of
cases, mutations of the RET proto-oncogene,
a tyrosine kinase receptor, result in a dominant disease with
incomplete penetrance.2-4 Mutations in the
RET ligand GDNF
(glial cell line derived neurotrophic factor) may also affect the
phenotype.5-7 A few patients with HSCR were found to have
heterozygous mutations in the genes encoding the endothelin B receptor
(EDNRB
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