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Titolo:
15 NOVEL FBN1 MUTATIONS CAUSING MARFAN-SYNDROME DETECTED BY HETERODUPLEX ANALYSIS OF GENOMIC AMPLICONS
Autore:
NIJBROEK G; SOOD S; MCINTOSH I; FRANCOMANO CA; BULL E; PEREIRA L; RAMIREZ F; PYERITZ RE; DIETZ HC;
Indirizzi:
JOHNS HOPKINS UNIV HOSP,DIV PEDIAT CARDIOL,ROSS 1170,720 RUTLAND AVE BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,DEPT PEDIAT BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,DEPT MED BALTIMORE MD 21205 JOHNS HOPKINS UNIV,SCH MED,CTR MED GENET,DEPT MOLEC BIOL & GENET BALTIMORE MD 21205 NIH,NATL CTR HUMAN GENOME RES BETHESDA MD 20892 MT SINAI SCH MED,BROOKDALE CTR MOLEC BIOL NEW YORK NY 00000 ALLEGHENY SINGER RES INST,DEPT HUMAN GENET PITTSBURGH PA 15212
Titolo Testata:
American journal of human genetics
fascicolo: 1, volume: 57, anno: 1995,
pagine: 8 - 21
SICI:
0002-9297(1995)57:1<8:1NFMCM>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
EPIDERMAL GROWTH-FACTOR; 2ND INTERNATIONAL-SYMPOSIUM; EGF-LIKE DOMAINS; CALCIUM-BINDING; NONSENSE MUTATIONS; CONNECTIVE-TISSUE; MISSENSE MUTATION; FIBRILLIN GENES; SYNDROME LOCUS; SEQUENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
56
Recensione:
Indirizzi per estratti:
Citazione:
G. Nijbroek et al., "15 NOVEL FBN1 MUTATIONS CAUSING MARFAN-SYNDROME DETECTED BY HETERODUPLEX ANALYSIS OF GENOMIC AMPLICONS", American journal of human genetics, 57(1), 1995, pp. 8-21

Abstract

Mutations in the gene encoding fibrillin-1 (FBN1), a component of theextracellular microfibril, cause the Marfan syndrome (MFS). This statement is supported by the observations that the classic Marfan phenotype cosegregates with intragenic and/or flanking marker alleles in all families tested and that a significant number of FBN1 mutations have been identified in affected individuals. We have now devised a method to screen the entire coding sequence and flanking splice junctions of FBN1. On completion for a panel of nine probands with classic MFS, six new mutations were identified that accounted for disease in seven (78%) of nine patients. Nine additional new mutations have been characterized in the early stages of a larger screening project. These 15 mutations were equally distributed throughout the gene and, with one exception, were specific to single families. One-third of mutations created premature termination codons, and 6 of 15 substituted residues with putative significance for calcium binding to epidermal growth factor (EGF)-like domains. Mutations causing severe and rapidly progressive disease that presents in the neonatal period can occur in a larger region of the gene than previously demonstrated, and the nature of the mutation is as important a determinant as its location, in predisposing to this phenotype.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 06:32:59