Cosegregation of Hirschsprung`s disease (HSCR) and a RET mutation in a French Canadian family with MEN 2A
- Pharmacia Biotech Montreal, Quebec (Canada)
- Univ. of Montreal, Quebec (Canada); and others
We have previously reported the occurrence of HSCR in a French Canadian family with MEN 2A. This B family includes 23 cases of medullary thyroid carcinoma (MTC) and 13 cases of HSCR of which 5 died at young age of intestinal obstruction; cases of HSCR are clustered in branches of the family in which MTC is segregating and each case of HSCR has a parent with MTC. HSCR cases with or without MTC harbors cosegregation of the MEN 2A haplotypes markers. A mutation of Cys 620 to Arg in exon 10 of RET identified in family members with MTC (without HSCR) was also present in the cases of HSCR who have not developed MTC yet. Three of the eight live HSCR cases have developed MTC and the other five are 19, 15, 18, 3 and 1 y.o. and have normal or high calcitonin levels. The data from this family suggest that HSCR cosegregated with MEN 2A mutation in this kindred. MEN 2A and recently described HSCR-associated RET mutations were proposed to actiate or repress RET proto-oncogene. The mutation responsible for HSCR in this kindred has not been identified yet; however, the anticipated HSCR mutation does not prevent the occurrence of MTC formation in MEN 2A mutation carriers.
- OSTI ID:
- 134740
- Report Number(s):
- CONF-941009-; ISSN 0002-9297; TRN: 95:005313-1478
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue Suppl.3; Conference: 44. annual meeting of the American Society of Human Genetics, Montreal (Canada), 18-22 Oct 1994; Other Information: PBD: Sep 1994
- Country of Publication:
- United States
- Language:
- English
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