Article Text

PDF

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease.
  1. T Attié,
  2. M Till,
  3. A Pelet,
  4. P Edery,
  5. J P Bonnet,
  6. A Munnich,
  7. S Lyonnet
  1. Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Paris, France.

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.