A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

@article{Bolk2000AHM,
  title={A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.},
  author={Stacey Bolk and Anna Pelet and Robert M. W. Hofstra and Misha Angrist and R{\'e}mi Salomon and David Croaker and C. H. Buys and Stanislas Lyonnet and Aravinda Chakravarti},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2000},
  volume={97 1},
  pages={
          268-73
        }
}
Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximately 50% of familial cases being heterozygous for mutations in the receptor tyrosine kinase RET. Even when identified, the penetrance of RET mutations is only 50-70%, gender-dependent, and varies with the extent of aganglionosis. We searched for additional susceptibility genes which, in… CONTINUE READING
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