A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease

@article{Metallinos1998AMM,
  title={A missense mutation in the endothelin-B receptor gene is associated with Lethal White Foal Syndrome: an equine version of Hirschsprung Disease},
  author={D L Metallinos and Ann T. Bowling and Jasper Rine},
  journal={Mammalian Genome},
  year={1998},
  volume={9},
  pages={426-431}
}
Abstract. Lethal White Foal Syndrome is a disease associated with horse breeds that register white coat spotting patterns. Breedings between particular spotted horses, generally described as frame overo, produce some foals that, in contrast to their parents, are all white or nearly all white and die shortly after birth of severe intestinal blockage. These foals have aganglionosis characterized by a lack of submucosal and myenteric ganglia from the distal small intestine to the large intestine… Expand
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TLDR
DNA samples from 17 probands of Italian origin with HSCR are analysed and two novel EDNRB mutations are identified, confirming the involvement ofEDNRB in HSCRs pathogenesis and demonstrating that EDNRBs mutations could contribute to HSCr disease in non-inbred populations. Expand
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease.
TLDR
Observations indicate that dysfunction or loss of function of endothelin-B receptor may be involved in the aetiology of some isolated patients with HSCR. Expand
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
TLDR
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
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
TLDR
Findings indicate an essential role for EDNRB in the development of two neural crest-derived cell lineages, myenteric ganglion neurons and epidermal melanocytes, and postulate that defects in the human ED NRB gene cause a hereditary form of Hirschsprung's disease that has recently been mapped to human chromosome 13. Expand
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The discovery of the molecular defect underlying the sl rat phenotype should contribute to the understanding of the genetic heterogeneity of HSCR in man. Expand
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TLDR
The nucleotide sequences of the EDNRB genes of the sl/sl rats were determined and it was found that a 301-bp region intervening between direct repeat sequences was deleted in theEDNRB gene, and the deletion produces various transcripts due to aberrant splicing. Expand
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TLDR
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TLDR
Heterozygous EDNRB missense mutations are reported in isolated HSCR, giving further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons and suggesting that EDNRBs could be dosage sensitive. Expand
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TLDR
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The lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which is a model for human aganglionic megacolon or Hirschsprung disease. Foals with LWFS have an all white,Expand
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