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Titolo:
C618R MUTATION IN EXON-10 OF THE RET PROTOONCOGENE IN A KINDRED WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND HIRSCHSPRUNGS-DISEASE
Autore:
CARON P; ATTIE T; DAVID D; AMIEL J; BROUSSET F; ROGER P; MUNNICH A; LYONNET S;
Indirizzi:
CHU RANGUEIL,SERV ENDOCRINOL,1 AVE J POULHES F-31054 TOULOUSE FRANCE HOP HAUT LEVEQUE BORDEAUX FRANCE HOP NECKER ENFANTS MALAD,INSERM U393,SERV GENET MED PARIS FRANCE HOP NECKER ENFANTS MALAD,INSERM U393,UNITE RECH HANDICAPS GENET ENFANT PARIS FRANCE
Titolo Testata:
The Journal of clinical endocrinology and metabolism
fascicolo: 7, volume: 81, anno: 1996,
pagine: 2731 - 2733
SICI:
0021-972X(1996)81:7<2731:CMIEOT>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
MEN 2A; PROTOONCOGENE; FMTC; IDENTIFICATION; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
P. Caron et al., "C618R MUTATION IN EXON-10 OF THE RET PROTOONCOGENE IN A KINDRED WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A AND HIRSCHSPRUNGS-DISEASE", The Journal of clinical endocrinology and metabolism, 81(7), 1996, pp. 2731-2733

Abstract

The cosegregation of multiple endocrine neoplasia (MEN) type 2A with Hirschsprung's disease (HSCR), two diseases associated with mutation of the RET proto-oncogene, is infrequent. A 30-yr-old man was referred for screening of MEN 2A. Surgery for HSCR was performed at 4 yr of age. Basal and pentagastrin-stimulated calcitonin levels were abnormal. Histological examination of the thyroid confirmed bilateral medullary thyroid carcinoma. Screening of family members revealed six subjects with medullary thyroid carcinoma or abnormal pentagastrin-stimulated calcitonin test; one had an unilateral pheochromocytoma and two were affected with HSCR. DNA sequence analysis showed a heterozygote C618R mutation in exon 10 of the RET proto-oncogene in the proband and his mother, as well as in second-degree relatives with MEN 2A phenotype or HSCR. In this study, we report on a novel kindred with MEN 2A and HSCR phenotype associated with a point mutation (C618R) in one of the cysteinecodons at the extracellular domain of the RET proto-oncogene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 18:40:02