A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10

@article{Lyonnet1993AGF,
  title={A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10},
  author={Stanislas Lyonnet and Alessandra Bolino and Anna Pelet and Laurent Abel and Claire Nihoul-F{\'e}k{\'e}t{\'e} and M. L. Briard and V. Mok-Siu and Helena K{\aa}{\aa}ri{\aa}inen and Giuseppe Martucciello and Margherita Lerone and Aldamaria Puliti and Yin Luo and Jean Weissenbach and Marcella Devoto and Arnold Munnich and Giovanni Romeo},
  journal={Nature Genetics},
  year={1993},
  volume={4},
  pages={346-350}
}
Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2–q21.2) in a patient with total colonic aganglionosis, and of a high–density genetic map of microsatellite DNA markers, we performed genetic linkage analysis in 15 non–syndromic long–segment and short–segment HSCR families. Multipoint… 
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.
Genetics of Hirschsprung disease
TLDR
HSCR has become a model of a complex polygenic disorder in which the interplay of different genes is currently being elucidated, and for almost every HSCR gene, incomplete penetrance of the H SCR phenotype has been observed.
Molecular-genetic analysis of Hirschsprung's disease in South Africa
TLDR
It is demonstrated that all the potential disease-related mutations identified in South African patients with sporadic HSCR occur in the RET gene.
Hirschsprung disease, associated syndromes and genetics: a review
TLDR
Isolated HSCR appears to be a non-Mendelian malformation with low, sex-dependent penetrance, and variable expression according to the length of the aganglionic segment, which stands as a model for genetic disorders with complex patterns of inheritance.
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).
Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.
TLDR
The DNA sequences of 5 further genes (GDNF, GDNFRalpha, EDN3, EDNRB, and NTN), that may contribute to the development of HSCR, have not shown mutations in the patients analyzed so far.
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
TLDR
The data suggest that the two anatomical forms of familial HSCR, which have been separated on the basis of clinical and genetic criteria, may be regarded as the variable clinical expression of mutations at the RET locus.
Frequency of RET mutations in long‐ and short‐segment Hirschsprung disease
TLDR
The approach of single‐strand conformational polymorphism analysis established for all the 20 exons of the RET proto‐oncogene, and previously used to screen for point mutations in Hirschsprung patients, allowed us to identify seven additional mutations among 39 sporadic and familial cases of HirschSprung disease.
Novel RET mutations in Hirschsprung's disease patients from the diverse South African population
TLDR
This study represents the first comprehensive genetic analysis of HSCR in the diverse South African population and identifies five novel mutations and one previously described mutation.
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
TLDR
The hypothesis that RET, in addition to its potential role in tumorigenesis, plays a critical role in the embryogenesis of the mammalian enteric nervous system is supported.
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TLDR
A cytogenetically undetectable deletion was observed in a patient with total colonic aganglionosis with small bowel involvement (TCSA), a variant of Hirschsprung disease, and it is hypothesized that they originate from mutations in different genes clustered in the centromeric region of 10q.
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TLDR
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TLDR
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TLDR
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TLDR
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