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Titolo:
Preserved speech variant is allelic of classic Rett syndrome
Autore:
De Bona, C; Zappella, M; Hayek, G; Meloni, I; Vitelli, F; Bruttini, M; Cusano, R; Loffredo, P; Longo, I; Renieri, A;
Indirizzi:
Univ Siena, Policlin Le Scotte, I-53100 Siena, Italy Univ Siena Siena Italy I-53100 Policlin Le Scotte, I-53100 Siena, Italy Ist Giannina Gaslini, Genet Mol Lab, I-16148 Genoa, Italy Ist Giannina Gaslini Genoa Italy I-16148 t Mol Lab, I-16148 Genoa, Italy
Titolo Testata:
EUROPEAN JOURNAL OF HUMAN GENETICS
fascicolo: 5, volume: 8, anno: 2000,
pagine: 325 - 330
SICI:
1018-4813(200005)8:5<325:PSVIAO>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
CRITERIA; PATTERN; COMPLEX; GENE;
Keywords:
preserved speech variant; Rett syndrome; MECP2;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Renieri, A Univ Siena, Policlin Le Scotte, Viale Bracci 2, I-53100 Siena, Italy Univ Siena Viale Bracci 2 Siena Italy I-53100 100 Siena, Italy
Citazione:
C. De Bona et al., "Preserved speech variant is allelic of classic Rett syndrome", EUR J HUM G, 8(5), 2000, pp. 325-330

Abstract

Rett syndrome is a neurological disorder affecting predominantly females with regression loss of speech and purposeful hand use, after a few months of almost normal development. Postnatal microcephaly, hand dispraxia, stereotypic 'hand-washing' activities, ataxia, and abnormal breathing are among its most characteristic features. Another aspect of this disorder is growth failure. The preserved speech variant (PSV) shares with Rett syndrome the same course and the stereotypic hand-washing activities but it differs in that patients typically recover some degree of speech and hand use and usually do not show growth failure. Progressive scoliosis, epilepsy and other minor handicaps, usually present in Rett syndrome, are rare in the preserved speech variant. Here we explore the spectrum of mutations affecting the MECP2 gene in a group of 25 classic Rett syndrome girls and in three patients with the preserved speech variant. Among the Rett syndrome group, two novel mutational hot spots (R270X and R294X), four novel mutations, two novel small deletions, as well as the previously reported 806delG, R168X and R255X mutations, were identified in 20/25 patients. Of note, among the preserved speech variants, two patients carry deletions of 41 bp and 44 bp each, whichare strikingly similar to those observed in classic Rett syndrome. Our results confirm the presence of mutational hot spots in MECP2, broaden the spectrum of mutations, pinpoint additional mutational hot spots and establish that the preserved speech variant is indeed allelic of the classic form. Phenotype variability is only partially dependent on the kind of MECP2 mutation and other mechanisms such as skewed X-inactivation, and/or modifier geneeffects should be investigated to explain the variable recovery in speech and hand use.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 16:24:59