Mutations of the RET proto-oncogene in Hirschsprung's disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-01

AUTHORS

Patrick Edery, Stanislas Lyonnet, Lois M. Mulligan, Anna Pelet, Eleanore Dow, Laurent Abel, Susan Holder, Claire Nihoul-Fékété, Bruce A. J. Ponder, Arnold Munnich

ABSTRACT

HIRSCHSPRUNG'S disease (HSCR)1 is a common condition (1 in 5,000 live births) resulting in intestinal obstruction in neonates2 and megacolon in infants and adults3. This disease has been ascribed to the absence of autonomic ganglion cells, which are derived from the neural crest, in the terminal hindgut4. Segregation analyses have suggested incompletely penetrant dominant inheritance in familial HSCR5. Recently, a gene for HSCR has been mapped to chromosome 10q11.2 (refs 6, 7). No recombination was observed between the disease locus and the locus for the RET proto-oncogene8, a protein tyrosine kinase gene expressed in the cells derived from the neural crest9,10. Here we report nonsense and missense mutations in the extracellular domain of RET protein (exons 2, 3, 5 and 6) in six unrelated probands and show that the mutant genotypes segregate with the disease in HSCR families. Mutations of RET have been previously reported in multiple endocrine neoplasia type 2A (MEN 2A)11,12. Thus, germ-line mutations of the RET gene may contribute either to developmental anomalies in HSCR or to inherited predisposition to cancer in MEN 2A. More... »

PAGES

378-380

Journal

TITLE

Nature

ISSUE

6461

VOLUME

367

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/367378a0

DOI

http://dx.doi.org/10.1038/367378a0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040357518

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/8114939


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49 anomalies
50 autonomic ganglion cells
51 cancer
52 cells
53 common condition
54 conditions
55 crest
56 developmental anomalies
57 disease
58 disease locus
59 domain
60 dominant inheritance
61 extracellular domain
62 family
63 ganglion cells
64 genes
65 genotypes
66 germ-line mutations
67 infants
68 inheritance
69 intestinal obstruction
70 kinase gene
71 loci
72 megacolon
73 men
74 missense mutations
75 multiple endocrine neoplasia type 2A
76 mutant genotypes
77 mutations
78 mutations of RET
79 neural crest
80 nonsense
81 obstruction
82 predisposition
83 probands
84 protein
85 protein tyrosine kinase gene
86 recombination
87 segregation analysis
88 type 2A
89 tyrosine kinase gene
90 unrelated probands
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