Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses

@article{Santschi2009EndothelinRB,
  title={Endothelin receptor B polymorphism associated with lethal white foal syndrome in horses},
  author={Elizabeth M Santschi and Amanda K. Purdy and Stephanie J. Valberg and Paul D. Vrotsos and Heather J Kaese and James R. Mickelson},
  journal={Mammalian Genome},
  year={2009},
  volume={9},
  pages={306-309}
}
Overo lethal white syndrome (OLWS) is an inherited syndrome of foals born to American Paint Horse parents of the overo coat-pattern lineage. Affected foals are totally or almost totally white and die within days from complications due to intestinal aganglionosis. Related conditions occur in humans and rodents in which mutations in the endothelin receptor B (EDNRB) gene are responsible. EDNRB is known to be involved in the developmental regulation of neural crest cells that become enteric… Expand
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TLDR
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This work has identified in HSCR patients a G-->T missense mutation in EDNRB exon 4 that substitutes the highly conserved Trp-276 residue in the fifth transmembrane helix of the G protein-coupled receptor with a Cys residue (W276C). Expand
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