Article
RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.
Surgery - 1 Apr 2002
Pasini Barbara, Rossi Roberta, Ambrosio Maria Rosaria, Zatelli Maria Chiara, Gullo Maria, Gobbo Morena, Collini Paola, Aiello Antonella, Pansini Giancarlo, Trasforini Giorgio, degli Uberti Ettore Ciro
Abstract excerpt
BACKGROUND: RET proto-oncogene germ line mutations are associated with the inherited multiple endocrine neoplasia type 2 syndromes (MEN 2), as well as with familial and sporadic Hirschsprung's disease (HSCR). In this study, we report a family in which the MEN 2A and the HSCR phenotypes are associated with a single point mutation in exon 10 of the RET proto-oncogene. Furthermore, we have investigated polymorphic...
Topics
- Adult
- Aged
- Alleles
- Child
- Child, Preschool
- Drosophila Proteins
- Exons
- Female
- Heterozygote
- Hirschsprung Disease
- Humans
- Male
- Multiple Endocrine Neoplasia Type 2a