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Titolo:
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
Autore:
Vourch, P; Bienvenu, T; Beldjord, C; Chelly, J; Barthelemy, C; Muh, JP; Andres, C;
Indirizzi:
Fac Med Tours, INSERM U316, Lab Biochem & Biol Mol, F-37032 Tours, France Fac Med Tours Tours France F-37032 hem & Biol Mol, F-37032 Tours, France Fac Med Cochin, ICGM, Lab Genet Physiopathol Retards Mentaux, F-75014 Paris, France Fac Med Cochin Paris France F-75014 tards Mentaux, F-75014 Paris, France Hop Bretonneau, Serv Univ Explorat Fonct & Neurophysiol Pedopsych, INSERM U316, F-37032 Tours, France Hop Bretonneau Tours France F-37032 , INSERM U316, F-37032 Tours, France
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 7, volume: 9, anno: 2001,
pagine: 556 - 558
SICI:
1018-4813(200107)9:7<556:NMITCR>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
MENTAL-RETARDATION; X-CHROMOSOME; INSTABILITY; DIAGNOSIS;
Keywords:
autism; rett syndrome; MECP2 gene; DGGE analysis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Andres, C Fac Med Tours, INSERM U316, Lab Biochem & Biol Mol, 2 Bis Bd Tonnelle, F-37032 Tours, France Fac Med Tours 2 Bis Bd Tonnelle Tours France F-37032 rs, France
Citazione:
P. Vourc'h et al., "No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients", EUR J HUM G, 9(7), 2001, pp. 556-558

Abstract

Autistic disorder is a pervasive developmental disorder considered to havea multigenic origin. Mental retardation is present in 75% of autistic patients. Autistic features are found in Rett syndrome, a neurological disorderaffecting girls and associated with severe mental retardation. Recently, the gene responsible for the Rett syndrome, methyl CpG-binding protein (MECP2) gene, was identified on the X chromosome by a candidate gene strategy. Mutations in this gene were also observed in some mentally retarded males. In this study we tested MECP2 as a candidate gene in autistic disorder by a DGGE analysis of its coding region and intron-exon boundaries. Among 59 autistic patients, 42 males and 17 females, mentally retarded or not, no mutations or polymorphisms were present in the MECP2 gene. Taking into account the size of our sample, we conclude that MECP2 coding sequence mutations arenot an important factor (less than 5% of cases) in the aetiology of autistic disorder.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 18:30:39