Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?

@article{Takahashi1999CosegregationOM,
  title={Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function?},
  author={Masahide Takahashi and Toshihide Iwashita and Michele Santoro and Stanislas Lyonnet and Gilbert M. Lenoir and Marc Billaud},
  journal={Human mutation},
  year={1999},
  volume={13 4},
  pages={331-6}
}
Multiple endocrine neoplasia type 2 (MEN2) and Hirschsprung's disease (HSCR) are two dominantly inherited neurocristopathies ascribed to mutations in the RET gene [Chakravarti, 1996; Pasini et al., 1996; Eng and Mulligan, 1997]. MEN2 is a cancer syndrome comprising three related clinical subtypes: (1) MEN type 2A (MEN2A; MIM# 171400) characterized by the association of medullary thyroid carcinoma (MTC), pheochromocytoma (Pheo), and hyperparathyroidism; (2) MEN type 2B (MEN2B; MIM# 162300… CONTINUE READING