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Titolo:
MECP2 mutation in male patients with non-specific X-linked mental retardation
Autore:
Orrico, A; Lam, CW; Galli, L; Dotti, MT; Hayek, G; Tong, SF; Poon, PMK; Zappella, M; Federico, A; Sorrentino, V;
Indirizzi:
Policlin Le Scotte, Siena, Italy Policlin Le Scotte Siena ItalyPoliclin Le Scotte, Siena, Italy Chinese Univ Hong Kong, Prince Wales Hosp, Dept Chem Pathol, Hong Kong, Hong Kong, Peoples R China Chinese Univ Hong Kong Hong Kong Hong Kong Peoples R China oples R China Univ Siena, Inst Neurometab Dis, I-53100 Siena, Italy Univ Siena Siena Italy I-53100 Inst Neurometab Dis, I-53100 Siena, Italy Policlin Le Scotte, Dept Child Neuropsychiat, Siena, Italy Policlin Le Scotte Siena Italy , Dept Child Neuropsychiat, Siena, Italy Ist Sci San Raffaele, DIBIT, Milan, Italy Ist Sci San Raffaele Milan Italy Sci San Raffaele, DIBIT, Milan, Italy Univ Siena, Dept Neurosci, Mol Med Sect, I-53100 Siena, Italy Univ Siena Siena Italy I-53100 rosci, Mol Med Sect, I-53100 Siena, Italy
Titolo Testata:
FEBS LETTERS
fascicolo: 3, volume: 481, anno: 2000,
pagine: 285 - 288
SICI:
0014-5793(20000922)481:3<285:MMIMPW>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETT-SYNDROME; CHROMOSOME INACTIVATION; METHYLATED DNA; PROTEIN MECP2; EXCLUSION; DOMAIN; BINDS;
Keywords:
x-linked mental retardation; MECP2 gene; missense mutation; development;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Sorrentino, V Policlin Le Scotte, Siena, Italy Policlin Le Scotte Siena Italy in Le Scotte, Siena, Italy
Citazione:
A. Orrico et al., "MECP2 mutation in male patients with non-specific X-linked mental retardation", FEBS LETTER, 481(3), 2000, pp. 285-288

Abstract

In contrast to the preponderance of affected males in families with X-linked mental retardation, Rett syndrome (RTT) is a neurological disorder occurring almost exclusively in females, The near complete absence of affected males in RTT families has been explained by the lethal effect of an X-linkedgene mutation in hemizygous affected males. We report here on a novel mutation (A140V) in the MECP2 gene detected in one female with mild mental retardation. In a family study, the A140V mutation was found to segregate in the affected daughter and in four adult sons with severe mental retardation, These results indicate that MECP2 mutations are not necessarily lethal in males and that they can be causative of non-specific X-linked mental retardation. (C) 2000 Federation of European Biochemical Societies. Published by Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/01/20 alle ore 07:54:10