Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.

Abstract

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.

• Authors: T Attié, M Till, A Pelet, P Edery, J P Bonnet, A Munnich, S Lyonnet
• Journal: Journal of medical genetics (J Med Genet) Vol. 32 Issue 4 Pg. 312-3 (Apr 1995) ISSN: 0022-2593 [Print] England
• PMID: 7643365 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Satellite
• DNA-Binding Proteins
• Genetic Markers
• PAX3 Transcription Factor
• PAX3 protein, human
• Paired Box Transcription Factors
• Transcription Factors
• Pax3 protein, mouse

Topics

• Consanguinity
• DNA, Satellite
• DNA-Binding Proteins (genetics)
• Family Health
• Female
• Gene Frequency
• Genes, Dominant
• Genetic Linkage
• Genetic Markers
• Haplotypes
• Hirschsprung Disease (complications, genetics)
• Humans
• Infant
• Infant, Newborn
• Male
• PAX3 Transcription Factor
• Paired Box Transcription Factors
• Pedigree
• Proto-Oncogenes (genetics)
• Transcription Factors
• Waardenburg Syndrome (complications, genetics)