[Identification of mutation of RET proto-oncogene in Hirschsprung disease].
Hirschsprung's disease is a frequent congenital malformation of the hindgut. The existence of Hirschsprung's families favors the role of an autosomal dominant gene with a reduced penetrance. We have successively localized and identified the RET proto-oncogene as the gene responsible for familial Hirschsprung's disease. Interestingly, other mutations of the RET proto-oncogene have been described in inherited predisposition to endocrine cancers. This observation shows that, depending on their nature, mutations of the RET proto-oncogene could lead either to early developmental defects or to tumor predisposition.
Attié
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Service de Génétique Médicale, INSERM U-393, Hôpital des Enfants-Malades, Paris.
Edery
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P
Lyonnet
S
S
Nihoul-Fékété
C
C
Munnich
A
A
D004701:Endocrine Gland Neoplasms / Q000235:genetics; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D011519:Proto-Oncogenes / Q000235:genetics*
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins
Identification de mutations du proto-oncogène RET dans la maladie de Hirschsprung.