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Titolo:
MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
Autore:
Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J;
Indirizzi:
Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France Hop Necker Enfants Malad Paris France 15 Genet, F-75743 Paris 15, France Hop Necker Enfants Malad, INSERM U393, F-75743 Paris, France Hop Necker Enfants Malad Paris France F-75743 393, F-75743 Paris, France
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 38, anno: 2001,
pagine: 171 - 174
SICI:
0022-2593(200103)38:3<171:MMINNE>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKED MENTAL-RETARDATION; RETT-SYNDROME;
Keywords:
MECP2 gene; Rett syndrome; Angelman syndrome; encephalopathy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Amiel, J Hop Necker Enfants Malad, Dept Genet, 149 Rue Sevres, F-75743 Paris 15, France Hop Necker Enfants Malad 149 Rue Sevres Paris France 15 , France
Citazione:
B. Imessaoudene et al., "MECP2 mutation in non-fatal, non-progressive encephalopathy in a male", J MED GENET, 38(3), 2001, pp. 171-174

Abstract

To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in bothmales and females.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/02/20 alle ore 04:09:06