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Titolo:
MECP2 is highly mutated in X-linked mental retardation
Autore:
Couvert, P; Bienvenu, T; Aquaviva, C; Poirier, K; Moraine, C; Gendrot, C; Verloes, A; Andres, C; Le Fevre, AC; Souville, I; Steffann, J; des Portes, V; Ropers, HH; Yntema, HG; Fryns, JP; Briault, S; Chelly, J; Cherif, B;
Indirizzi:
CHU Cochin, INSERM Unite 129 ICGM, F-75014 Paris, France CHU Cochin Paris France F-75014 RM Unite 129 ICGM, F-75014 Paris, France CHU Cochin, Lab Biochim & Genet Mol, Paris, France CHU Cochin Paris France Cochin, Lab Biochim & Genet Mol, Paris, France CHU Tours, Serv Genet, Hop Bretonneau, F-37044 Tours, France CHU Tours Tours France F-37044 et, Hop Bretonneau, F-37044 Tours, France CHU Sart Tilman, Ctr Univ Wallon Genet, B-4000 Cointe Ougree, Belgium CHU Sart Tilman Cointe Ougree Belgium B-4000 4000 Cointe Ougree, Belgium Max Planck Inst Mol Genet, Berlin, Germany Max Planck Inst Mol Genet Berlin Germany nst Mol Genet, Berlin, Germany Univ Nijmegen Hosp, Dept Human Genet 417, NL-6500 HB Nijmegen, NetherlandsUniv Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Clin Genet Univ, UZ Gasthuisberg, Ctr Human Genet, B-3000 Louvain, BelgiumClin Genet Univ Louvain Belgium B-3000 an Genet, B-3000 Louvain, Belgium
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 9, volume: 10, anno: 2001,
pagine: 941 - 946
SICI:
0964-6906(20010415)10:9<941:MIHMIX>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN-2; RETT-SYNDROME PATIENTS; CHROMOSOME INACTIVATION; HISTONE DEACETYLASE; METHYLATED DNA; GENE MECP2; MUTATIONS; SEQUENCE; COMPLEX;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Chelly, J CHU Cochin, INSERM Unite 129 ICGM, 24 Rue Faubourg St Jacques, F-75014 Paris, France CHU Cochin 24 Rue Faubourg St Jacques Paris France F-75014 ance
Citazione:
P. Couvert et al., "MECP2 is highly mutated in X-linked mental retardation", HUM MOL GEN, 10(9), 2001, pp. 941-946

Abstract

Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrumof phenotypes, including mental handicap, has been shown to be associated with mutations in MECP2, These findings, with the compelling genetic evidence suggesting the presence in Xq28 of additional genes besides RabGDI1 and FMR2 involved in non-specific X-linked mental retardation (MRX), prompted us to investigate MECP2 in MRX families. Two novel mutations, not found in RTT, were identified. The first mutation, an E137G, was identified in the MRX16 family, and the second, R167W, was identified in a new mental retardation (MR) family shown to be linked to Xq28, In view of these data, we screened MECP2 in a cohort of 185 patients found negative for the expansions across the FRAXA CGG repeat and reported the identification of mutations in four sporadic cases of MR. One of the mutations, A140V, which we found in two patients, has been described previously, whereas the two others, P399L and R453Q, are novel mutations. In addition to the results demonstrating the involvement of MECP2 in MRX, this study shows that the frequency of mutationsin MECP2 in the mentally retarded population screened for the fragile X syndrome is comparable to the frequency of the CGG expansions in FMR1, Therefore, implementation of systematic screening of MECP2 in MR patients should result in significant progress in the field of molecular diagnosis and genetic counseling of mental handicap.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 07:03:21