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Am J Med Genet. 1990 Jan;35(1):100-4.

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

Author information

1
Division of Human Genetics, Graduate School of Public Health, University of Pittsburgh.

Abstract

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.

PMID:
2301458
DOI:
10.1002/ajmg.1320350119
[Indexed for MEDLINE]

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