Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
The RET and the Pax 3 genes have recently been shown to account for autosomal dominant Hirschsprung's disease (HSCR) and Waardenburg syndrome type 1 (WS1) respectively, which led us to consider them as candidate genes in the WS/HSCR association. Linkage analyses performed in a consanguineous WS/HSCR family support the view that neither the RET locus nor the Pax 3 locus are involved in the disease phenotype. Hence, at least one further locus altering neural crest cell development is responsible for the pleiotropic features observed in the WS/HSCR association.
Attié
T
T
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Paris, France.
Till
M
M
Pelet
A
A
Edery
P
P
Bonnet
J P
JP
Munnich
A
A
Lyonnet
S
S
D003241:Consanguinity; D004276:DNA, Satellite; D004268:DNA-Binding Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006627:Hirschsprung Disease / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D011519:Proto-Oncogenes / Q000235:genetics*; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000150:complications* / Q000235:genetics*
D004276:DNA, Satellite; D004268:DNA-Binding Proteins; D005819:Genetic Markers; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse