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Titolo:
Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation
Autore:
Rodriguez, D; Gauthier, F; Bertini, E; Bugiani, M; Brenner, M; Nguyen, S; Goizet, C; Gelot, A; Surtees, R; Pedespan, JM; Hernandorena, X; Troncoso, M; Uziel, G; Messing, A; Ponsot, G; Pham-Dinh, D; Dautigny, A; Boespflug-Tanguy, O;
Indirizzi:
Univ Paris 06, INSERM, U546, Mol Neurogenet Lab, F-75252 Paris 05, France Univ Paris 06 Paris France 05 l Neurogenet Lab, F-75252 Paris 05, France Hop St Vincent de Paul, Unite Neuropathol, F-75674 Paris, France Hop St Vincent de Paul Paris France F-75674 athol, F-75674 Paris, France Hop Armand Trousseau, Serv Neuropediat, Paris, France Hop Armand Trousseau Paris France seau, Serv Neuropediat, Paris, France Bambino Gesu Res Hosp IRCCS, Dept Neurosci, Rome, Italy Bambino Gesu Res Hosp IRCCS Rome Italy RCCS, Dept Neurosci, Rome, Italy Carlo Besta Inst, Milan, Italy Carlo Besta Inst Milan ItalyCarlo Besta Inst, Milan, Italy Univ Alabama, Dept Neurobiol, Birmingham, AL USA Univ Alabama Birmingham AL USA abama, Dept Neurobiol, Birmingham, AL USA Univ Alabama, Dept Phys Med & Rehabil, Birmingham, AL USA Univ Alabama Birmingham AL USA pt Phys Med & Rehabil, Birmingham, AL USA Fac Med, INSERM, U384, Clermont Ferrand, France Fac Med Clermont FerrandFrance INSERM, U384, Clermont Ferrand, France CHU Nantes, Clin Med Pediat, F-44035 Nantes 01, France CHU Nantes NantesFrance 01 , Clin Med Pediat, F-44035 Nantes 01, France CHU Pellegrin, Serv Genet Med, Pellegrin, France CHU Pellegrin PellegrinFrance egrin, Serv Genet Med, Pellegrin, France CHU Pellegrin, Serv Pediat, Pellegrin, France CHU Pellegrin Pellegrin France ellegrin, Serv Pediat, Pellegrin, France Univ Coll London, Inst Child Hlth, London WC1E 6BT, England Univ Coll London London England WC1E 6BT Hlth, London WC1E 6BT, England CH Cote Basque, Dept Pediat, Bayonne, France CH Cote Basque Bayonne France Cote Basque, Dept Pediat, Bayonne, France Hosp Clin San Borja Arriaran, Santiago, Chile Hosp Clin San Borja Arriaran Santiago Chile a Arriaran, Santiago, Chile Univ Wisconsin, Waisman Ctr, Dept Pathol Sci, Madison, WI 53705 USA Univ Wisconsin Madison WI USA 53705 ept Pathol Sci, Madison, WI 53705 USA Univ Wisconsin, Sch Vet Med, Madison, WI 53706 USA Univ Wisconsin MadisonWI USA 53706 n, Sch Vet Med, Madison, WI 53706 USA Hop St Vincent de Paul, Unite Neuropathol, F-75674 Paris, France Hop St Vincent de Paul Paris France F-75674 athol, F-75674 Paris, France
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 5, volume: 69, anno: 2001,
pagine: 1134 - 1140
SICI:
0002-9297(200111)69:5<1134:IADSOG>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
EPIDERMOLYTIC PALMOPLANTAR KERATODERMA; FIBRILLARY ACIDIC PROTEIN; PALATAL MYOCLONUS; ROSENTHAL FIBERS; TRANSGENIC MICE; KERATIN-9; ASTROCYTES; ATAXIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Rodriguez, D Univ Paris 06, INSERM, U546, Mol Neurogenet Lab, Boite Courrier 16,9 Quai St Bernard, F-75252 Paris 05, France Univ Paris 06 Boite Courrier 16,9 Quai St Bernard Paris France 05
Citazione:
D. Rodriguez et al., "Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation", AM J HU GEN, 69(5), 2001, pp. 1134-1140

Abstract

Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates for Alexander disease on the basis of suggestive neuroimaging abnormalities. Missense, heterozygous, de novo GFAP mutations were found in exons 1 or 4for 14 of the 15 patients analyzed, including patients without macrocephaly. Nine patients carried arginine mutations (four had R79H; four had R239C;and one had R239H) that have been described elsewhere, whereas the other five had one of four novel mutations, of which two affect arginine (2R88C and 1R88S) and two affect nonarginine residues (1L76F and 1N77Y). All mutations were located in the rod domain of GFAP, and there is a correlation between clinical severity and the affected amino acid. These results confirm that GFAP mutations are a reliable molecular marker for the diagnosis of infantile Alexander disease, and they also form a basis for the recommendation of GFAP analysis for prenatal diagnosis to detect potential cases of germinal mosaicism.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 08:00:18