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21 results on '"Nihoul-Fékéte C"'

9. Chronic Intestinal Pseudo-Obstruction Syndrome in Pediatric Patients

Author

Goulet, O., primary, Jobert-Giraud, A., additional, Michel, J., additional, Jaubert, F., additional, Lortat-Jacob, S., additional, Colomb, V., additional, Cuenod-Jabri, B., additional, Jan, D., additional, Brousse, N., additional, Gaillard, D., additional, Nihoul-Fékéte, C., additional, and Ricour, C., additional

Published
1999
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10. [Mutations of RET proto-oncogene in Hirschsprung disease]

Author

Lyonnet S, Edery P, Lm, Mulligan, Anastella PELET, Dow E, Abel L, Holder S, Nihoul-Fékéte C, Ba, Ponder, and Munnich A

Subjects
Male, Codon, Nonsense, Proto-Oncogene Proteins, Proto-Oncogene Proteins c-ret, Infant, Newborn, Drosophila Proteins, Humans, Point Mutation, Receptor Protein-Tyrosine Kinases, Female, Hirschsprung Disease, Proto-Oncogene Mas, Pedigree
Abstract

Hirschsprung's disease (HSCR) is a common condition (1 in 5,000 live births) resulting in intestinal obstruction in neonates and megacolon in infants and adults. This disease has been ascribed to the absence of autonomic ganglion cells, which are derived from the neural crest, in the terminal hindgut. Segregation analyses have suggested incompletely penetrant dominant inheritance in familial HSCR. Recently, a gene for HSCR has been mapped to chromosome 10q11.2. 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. Here we report on nonsense and missense mutations in the extracellular domain of the RET protein (exons 2, 3, 5 and 6) in 6 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). 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.

21. [Mutations of RET proto-oncogene in Hirschsprung disease].

Author

Lyonnet S, Edery P, Mulligan LM, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fékéte C, Ponder BA, and Munnich A

Subjects
Codon, Nonsense, Female, Humans, Infant, Newborn, Male, Pedigree, Proto-Oncogene Mas, Proto-Oncogene Proteins c-ret, Drosophila Proteins, Hirschsprung Disease genetics, Point Mutation, Proto-Oncogene Proteins genetics, Receptor Protein-Tyrosine Kinases genetics
Abstract

Hirschsprung's disease (HSCR) is a common condition (1 in 5,000 live births) resulting in intestinal obstruction in neonates and megacolon in infants and adults. This disease has been ascribed to the absence of autonomic ganglion cells, which are derived from the neural crest, in the terminal hindgut. Segregation analyses have suggested incompletely penetrant dominant inheritance in familial HSCR. Recently, a gene for HSCR has been mapped to chromosome 10q11.2. 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. Here we report on nonsense and missense mutations in the extracellular domain of the RET protein (exons 2, 3, 5 and 6) in 6 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). 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.

Published
1994

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