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Titolo:
A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma
Autore:
Pigny, P; Bauters, C; Wemeau, JL; Houcke, ML; Crepin, M; Caron, P; Giraud, S; Calender, A; Buisine, MP; Kerckaert, JP; Porchet, N;
Indirizzi:
Ctr Hosp Reg & Univ Lille, Clin Marc Linquette, Biochim Lab, Secteur Commun Ctr Hosp Reg & Univ Lille Lille France F-59037 ochim Lab, Secteur Commun Ctrancep Reg & Univ Lille, Serv Endocrinol & Med Interne, F-59037 Lille, Fr Ctr Hosp Reg & Univ Lille Lille France F-59037 nterne, F-59037 Lille, Fr Ctr Hosp Reg & Univ Lille, Serv Anat Pathol, F-59037 Lille, France Ctr Hosp Reg & Univ Lille Lille France F-59037 ol, F-59037 Lille, France Hop Edouard Herriot, Lab Genet Mol, F-69437 Lyon, France Hop Edouard Herriot Lyon France F-69437 Genet Mol, F-69437 Lyon, France CHU Toulouse, Hop Rangueil, Serv Endocrinol, F-31403 Toulouse 4, France CHU Toulouse Toulouse France 4 rv Endocrinol, F-31403 Toulouse 4, France
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 5, volume: 84, anno: 1999,
pagine: 1700 - 1704
SICI:
0021-972X(199905)84:5<1700:AN9PDI>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
NEOPLASIA TYPE 2A; RECEPTOR TYROSINE KINASE; HIRSCHSPRUNGS-DISEASE; PROTOONCOGENE MUTATIONS; POINT MUTATION; GENE-MUTATIONS; MEN 2A; DOMAIN; PHENOTYPE; FMTC;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Pigny, P Ctr Hosp Reg & Univ Lille, Clin Marc Linquette, Biochim Lab, Secteur Commun Ctr Hosp Reg & Univ Lille Pl Verdun,Batiment USN A Lille FranceF-59037
Citazione:
P. Pigny et al., "A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma", J CLIN END, 84(5), 1999, pp. 1700-1704

Abstract

Familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia type 2A syndromes are dominantly inherited diseases caused by activatinggermline mutations of the RET protooncogene. The majority of these patients carry a germline point mutation affecting one of five cysteine residues encoded by exon 10 (codon 609, 611, 618, or 620) or 11 (codon 634). In a fewFMTC families, point mutations involving noncysteine codons in exon 13 (codons 768, 790, and 791), 14 (codon 804), or 15 (codon 891) have been reported. Hirschsprung's disease is a nonneoplastic disorder associated with RET mutations leading to a loss of function effect. Mutations are identified in50% of the familial cases and are scattered along the gene. We now report the study of a FMTC family with four affected members and a history of fatal neonatal intestinal obstruction in the sister of the proband. Genetic analysis demonstrated the absence of an usual FMTC mutation and the presence of a germline 9-bp duplication in RET exon 8 in the heterozygous state in all patients with MTC. This new mutation creates an additional cysteine residue in the extracellular cysteine-rich domain of RET. Further studies are warranted to confirm whether this new mutation is causing MTC only or could be associated with Hirschsprung's disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 20:18:32