Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
GERM-LINE MUTATION ANALYSIS IN PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 AND RELATED DISORDERS
Autore:
GIRAUD S; ZHANG CX; SEROVASINILNIKOVA O; WAUTOT V; SALANDRE J; BUISSON N; WATERLOT C; BAUTERS C; PORCHET N; AUBERT JP; EMY P; CADIOT G; DELEMER B; CHABRE O; NICCOLI P; LEPRAT F; DURON F; EMPERAUGER B; COUGARD P; GOUDET P; SARFATI E; RIOU JP; GUICHARD S; RODIER M; MEYRIER A; CARON P; VANTYGHEM MC; ASSAYAG M; PEIX JL; PUGEAT M; ROHMER V; VALLOTTON M; LENOIR G; GAUDRAY P; PROYE C; CONTEDEVOLX B; CHANSON P; SHUGART YY; GOLDGAR D; MURAT A; CALENDER A;
Indirizzi:
FAC MED ROCKEFELLER,LAB GENET & CANC,CNRS,UMR 5641 LYON FRANCE FAC MED ROCKEFELLER,LAB GENET & CANC,CNRS,UMR 5641 LYON FRANCE HOP EDOUARD HERRIOT,SERV GENET LYON FRANCE HOP EDOUARD HERRIOT,SERV ENDOCRINOL LYON FRANCE HOP ANTIQUAILLE,SERV ENDOCRINOL LYON FRANCE HOP ANTIQUAILLE,SERV CHIRURG LYON FRANCE CTR INT RECH CANC,UNITE GENET & EPIDEMIOL LYON FRANCE HOP CLAUDE HURIEZ,SERV ENDOCRINOL LILLE FRANCE HOP CLAUDE HURIEZ,SERV BIOCHIM,INSERM,U377 LILLE FRANCE HOP CLAUDE HURIEZ,SERV ENDOCRINOL LILLE FRANCE HOP CLAUDE HURIEZ,SERV CHIRURG ENDOCRINE LILLE FRANCE CTR HOSP GERMON & GAUTHIER,SERV MED & ENDOCRINOL BETHUNE FRANCE CTR HOSP,SERV ENDOCRINOL ORLEANS FRANCE CTR HOSP UNIV REIMS,SERV HEPATOGASTROENTEROL REIMS FRANCE CTR HOSP UNIV REIMS,SERV ENDOCRINOL REIMS FRANCE HOP NORD,SERV ENDOCRINOL GRENOBLE FRANCE HOP ENFANTS LA TIMONE,SERV ENDOCRINOL MARSEILLE FRANCE HOP ENFANTS LA TIMONE,SERV CHIRURG ENDOCRINE MARSEILLE FRANCE HOP HAUT LEVEQUE,SERV ENDOCRINOL BORDEAUX FRANCE HOP ST ANTOINE,SERV ENDOCRINOL F-75571 PARIS FRANCE HOP ST LOUIS,SERV CHIRURG ENDOCRINE PARIS FRANCE HOP LARIBOISIERE,DEPT MED INTERNE & ENDOCRINOL F-75475 PARIS FRANCE HOP GEN,DEPT CHIRURG GEN URGENCES & ENDOCRINIENNE DIJON FRANCE CTR HOSP,SERV ENDOCRINOL & MED INTERNE NIMES FRANCE HOP AVICENNE,SERV NEPHROL F-93009 BOBIGNY FRANCE HOP PURPAN,CTR HOSP UNIV,SERV ENDOCRINOL TOULOUSE FRANCE HOP CANTONAL UNIV GENEVA,DEPT ENDOCRINOL & DIABETOL CH-1211 GENEVA SWITZERLAND UNSA,CNRS,UMR 6549,LAB INSTABIL & ALTERAT GENOMES NICE FRANCE HOP BICETRE,SERV ENDOCRINOL LE KREMLIN BICETR FRANCE UNIV PITTSBURGH,SCH MED,DEPT CLIN EPIDEMIOL PITTSBURGH PA 00000 CTR HOSP UNIV,HOTEL DIEU,CLIN ENDOCRINOL NANTES FRANCE
Titolo Testata:
American journal of human genetics
fascicolo: 2, volume: 63, anno: 1998,
pagine: 455 - 467
SICI:
0002-9297(1998)63:2<455:GMAIPW>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
HYPERPARATHYROIDISM; GENE; TUMORS; MEN1; CHROMOSOME-11; CANCER; 11Q13;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
45
Recensione:
Indirizzi per estratti:
Citazione:
S. Giraud et al., "GERM-LINE MUTATION ANALYSIS IN PATIENTS WITH MULTIPLE ENDOCRINE NEOPLASIA TYPE-1 AND RELATED DISORDERS", American journal of human genetics, 63(2), 1998, pp. 455-467

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is autosomal dominant syndrome predisposing to tumors of the parathyroid, endocrine pancreas, anterior pituitary, adrenal glands, and diffuse neuroendocrine tissues. The MEN1 gene has been assigned, by linkage analysis and loss of heterozygosity, to chromosome 11q13 and recently has been identified by positional cloning. In this study, a total of 84 families and/or isolatedpatients with either MEN1 or MEN1-related inherited endocrine tumors were screened for MEN1 germ-line mutations, by heteroduplex and sequence analysis of the MEN1 gene-coding region and untranslated exon 1. Germ-line MEN1 alterations were identified in 47/54 (87%) MEN1 families,in 9/11 (82%) isolated MEN1 patients, and in only 6/19 (31.5%) atypical MEN1-related inherited cases. We characterized 52 distinct mutations in a total of 62 MEN1 germ-line alterations. Thirty-five of the 52 mutations were frameshifts and nonsense mutations predicted to encode for a truncated MEN1 protein. We identified eight missense mutations and five in-frame deletions over the entire coding sequence. Six mutations were observed more than once in familial MEN1. Haplotype analysis in families with identical mutations indicate that these occurrences reflected mainly independent mutational events. No MEN1 germline mutations were found in 7/54 (13%) MEN1 families, in 2/11 (18%) isolated MEN1cases, in 13/19 (68.5%) MEN1-related cases, and in a kindred with familial isolated hyperparathyroidism. Two hundred twenty gene carriers (167 affected and 53 unaffected) were identified. No evidence of genotype-phenotype correlation was found. Age-related penetrance was estimated to be >95% at age >30 years. Our results add to the diversity of MEN1 germ-line mutations and provide new tools in genetic screening of MEN1 and clinically related cases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 15:59:44