Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

Am J Med Genet. 1990 Jan;35(1):100-4. doi: 10.1002/ajmg.1320350119.


Segregation and linkage analysis was performed on published data on 5 families segregating for Waardenburg syndrome (WS) and Hirschsprung disease (HRSD). Two of these families demonstrated parental consanguinity. On the basis of these families, autosomal recessive inheritance of the combination WS-HRSD has been postulated. However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, is more plausible. A model of gene action incorporating stochastic effects is compatible with these observations.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Crossing Over, Genetic
  • Genes, Dominant*
  • Genetic Linkage
  • Hirschsprung Disease / complications
  • Hirschsprung Disease / genetics*
  • Humans
  • Models, Genetic
  • Phenotype
  • Waardenburg Syndrome / complications
  • Waardenburg Syndrome / genetics*