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Titolo:
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
Autore:
Watson, P; Black, G; Ramsden, S; Barrow, M; Super, M; Kerr, B; Clayton-Smith, J;
Indirizzi:
St Marys Hosp, Reg Genet Serv, Manchester M13 OH, Lancs, England St Marys Hosp Manchester Lancs England M13 OH ster M13 OH, Lancs, England Manchester Royal Eye Hosp, Univ Dept Ophthalmol, Manchester M13 9WH, Lancs, England Manchester Royal Eye Hosp Manchester Lancs England M13 9WH Lancs, England Leicester Royal Infirm, Clin Genet Serv, Leicester LE1 5WW, Leics, EnglandLeicester Royal Infirm Leicester Leics England LE1 5WW WW, Leics, England Royal Manchester Childrens Hosp, Dept Paediat Genet, Manchester M27 4HA, Lancs, England Royal Manchester Childrens Hosp Manchester Lancs England M274HA England
Titolo Testata:
JOURNAL OF MEDICAL GENETICS
fascicolo: 4, volume: 38, anno: 2001,
pagine: 224 - 228
SICI:
0022-2593(200104)38:4<224:ASPAWM>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETT-SYNDROME; EEG;
Keywords:
Angelman syndrome; Rett syndrome; MECP2 mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Clayton-Smith, J St Marys Hosp, Reg Genet Serv, Hathersage Rd, Manchester M13 OH, Lancs, England St Marys Hosp Hathersage Rd Manchester Lancs EnglandM13 OH
Citazione:
P. Watson et al., "Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein", J MED GENET, 38(4), 2001, pp. 224-228

Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormality of chromosome 15q11-13. Mutations within the Xlinked MECP2 gene have been identified in patients with Rett syndrome (RTT), a neurodevelopmental disorder which affects females almost exclusively and which shares phenotypic overlap with AS. RTT is usually associated with normal development in infancy followed by loss of acquired skills and evolution of characteristic hand wringing movements and episodes of hyperventilation. A panel of 25 female and 22 male patients with a clinical diagnosis of AS and no molecular abnormality of 15q11-13 were screened for MECP2 mutations and these were identified in four females and one male. Following the diagnosis, it was possible to elicit a history of regression in three of these patients, who by then were showing features suggestive of Rett syndrome. In the remaining two subjects the clinical phenotype was still considered to be Angelman-like. These findings illustrate the phenotypic overlap between the two conditions and suggest that screening for MECP2 mutations should be considered in ASpatients without a demonstrable molecular or cytogenetic abnormality of 15q11-13. Since MECP2 mutations almost always occur de novo, their identification will substantially affect genetic counselling for the families concerned.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 20:07:53