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Titolo:
Preserved speech variants of the Rett syndrome: Molecular and clinical analysis
Autore:
Zappella, M; Meloni, I; Longo, I; Hayek, G; Renieri, A;
Indirizzi:
Univ Siena, Policlin Le Scotte, Dipartimento Biol Mol, I-53100 Siena, Italy Univ Siena Siena Italy I-53100 partimento Biol Mol, I-53100 Siena, Italy Azienda Osped Siena, Siena, Italy Azienda Osped Siena Siena ItalyAzienda Osped Siena, Siena, Italy
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 1, volume: 104, anno: 2001,
pagine: 14 - 22
SICI:
0148-7299(20011115)104:1<14:PSVOTR>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
MECP2 GENE; MUTATION TYPE; PHENOTYPES; CRITERIA; COMPLEX; GIRLS;
Keywords:
PSV; MECP2 gene; modifier gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Renieri, A Univ Siena, Policlin Le Scotte, Dipartimento Biol Mol, Viale Bracci 2, I-53100 Siena, Italy Univ Siena Viale Bracci 2 Siena Italy I-53100100 Siena, Italy
Citazione:
M. Zappella et al., "Preserved speech variants of the Rett syndrome: Molecular and clinical analysis", AM J MED G, 104(1), 2001, pp. 14-22

Abstract

Mutations in the MECP2 gene cause the severe neurodevelopmental disorder called Rett syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader phenotype than classical Rett syndrome including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV patients. Ten of them had a MECP2 mutation (55%). The clinical featuresof these girls have been characterized and two subgroups defined. All of them had slow recovery of verbal and praxic abilities, evident autistic behavior, and normal head circumference. Six were overweight, often obese, had kyphosis, coarse face, and mental age of two-to-three years, and were able to speak in sentences; four had normal weight, mental age not beyond one-to-two years, and spoke in single words and two-word phrases. The course of the disorder was in stages as in classic Rett syndrome. Handwashing was present in the first years of life but often subsequently disappeared. Significantly, all mutations found in PSV are either missense or late truncating mutations. In particular, we did not find the four early truncating hot spots: R168X, R255X, R270X, R294X. These results suggest that early truncating mutations lead to a poor prognosis (classic Rett), while late truncating andmissense mutations lead either to classic Rett or PSV. We hypothesize thata missense or late truncating mutation is necessary but not sufficient to produce a PSV, based on the presence of one (or more) modifier genes whose product may interact in a epistatic manner with MeCP2 protein. (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 12:10:33