A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10

@article{Angrist1993AGF,
  title={A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10},
  author={Misha Angrist and Erick R. Kauffman and Susan A. Slaugenhaupt and Tara Cox Matise and Erik G. Puffenberger and Sarah S. Washington and Anthony H. Lipson and Daniel T. Cass and Troy Reyna and Daniel E. Weeks and William Sieber and Aravinda Chakravarti},
  journal={Nature Genetics},
  year={1993},
  volume={4},
  pages={351-356}
}
Hirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to be a multifactorial disease, we have identified linkage in a subset of five HSCR families to the pericentromeric region of chromosome 10, thereby proving monogenic inheritance in some families. A maximum two–point lod score of 3.37 (\[thetacirc] = 0.045) was observed between HSCR and D10S176, under an incompletely penetrant dominant model… 
Mutations of the RET proto-oncogene in Hirschsprung's disease
TLDR
No recombination was observed between the disease locus and the locus for the RET proto-oncogene, a protein tyrosine kinase gene expressed in the cells derived from the neural crest, and it is shown that the mutant genotypes segregate with the disease in HSCR families.
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TLDR
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TLDR
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TLDR
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TLDR
Although the presence of RET mutations in group I families is sufficient to explain HSCR inheritance, a genome scan reveals a new susceptibility locus on 9q31 exclusively in group II families, implying that identification of new susceptibility factors in a complex disease may depend on classification of families by mutational type at known susceptibility genes.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
TLDR
In a study of a large family with history of HSCR, variants in LRBA, RET, the gene encoding the RET ligand (GDNF), IHH, and a gene encoding a mediator of IHH signaling (GLI3) reduced the number of enteric neurons in the zebrafish gut.
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TLDR
The possible roles of RET and endothelin in the normal development of the enteric nervous system, and the significance of their mutated forms in the pathogenesis of familial aganglionosis are reviewed.
Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?
TLDR
A patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10 includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A).
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population.
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.
Gastrointestinal Tract: Molecular Genetics of Hirschsprung Disease
TLDR
Nine genes and three signal pathways have been identified in relation to the aetiology of this group of disorders, and Hirschsprung disease is currently the best understood multifactorial, nonMendelian genetic disorder.
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