Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
Hum Mutat
; 10(2): 155-9, 1997.
Article
em En
| MEDLINE
| ID: mdl-9259198
ABSTRACT
The multiple endocrine neoplasia type 2 (MEN2) syndromes and Hirschsprung's disease (HSCR) are inherited neurocristopathies characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, parathyroid disease, and gastrointestinal neuromatosis. Mutations in the RET proto-oncogene are the underlying cause of the MEN2 syndromes and some cases of HSCR. In this report, we show that Cys 618 Arg mutation cosegregates with familial MTC and HSCR in two Moroccan Jewish families in which no involvement of pheochromocytoma or parathyroidism was observed. A single haplotype shared by chromosomes bearing the Cys 618 Arg mutation in both families strongly suggests a founder effect for this mutation. We have observed in our and in several other previously reported families, an excess of maternal over paternal mutated RET alleles in offsprings affected by HSCR. We suggest that parental imprinting may play a role in the ethiology of HSCR caused by mutations in the RET protooncogene.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias da Glândula Tireoide
/
Proteínas Proto-Oncogênicas
/
Receptores Proteína Tirosina Quinases
/
Carcinoma Medular
/
Proteínas de Drosophila
/
Doença de Hirschsprung
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Mutação
Idioma:
En
Ano de publicação:
1997
Tipo de documento:
Article