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Titolo:
MECP2 mutation screening in Swedish classical Rett syndrome females
Autore:
Erlandson, A; Hallberg, B; Hagberg, B; Wahlstrom, J; Martinsson, T;
Indirizzi:
Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Gothenburg Univ Gothenburg Sweden S-41685 et, S-41685 Gothenburg, Sweden Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Paediat, S-41685 Gothenburg, Sweden Gothenburg Univ Gothenburg Sweden S-41685 at, S-41685 Gothenburg, Sweden
Titolo Testata:
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
fascicolo: 2, volume: 10, anno: 2001,
pagine: 117 - 121
SICI:
1018-8827(200106)10:2<117:MMSISC>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Keywords:
MECP2; Rett syndrome; RS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Social & Behavioral Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Erlandson, A Gothenburg Univ, Sahlgrenska Univ Hosp E, Dept Clin Genet, S-41685 Gothenburg, Sweden Gothenburg Univ Gothenburg Sweden S-41685 othenburg, Sweden
Citazione:
A. Erlandson et al., "MECP2 mutation screening in Swedish classical Rett syndrome females", EUR CHILD A, 10(2), 2001, pp. 117-121

Abstract

Rett syndrome (RS) is a neurodevelopmental disorder almost exclusively affecting females. We have studied the mutation spectrum of the responsible gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), in 16 sporadic classical RS females from Sweden. In 13 of 16 patients (81%) we detected nonsense or missense mutations in the coding parts of MECP2. This mutation rate is in agreement with other reports (65-80%). In all, 12 different mutationsand one polymorphism were found; three of the mutations have not been reported previously. The missense mutations were restricted to highly conservedregions of the gene. None of the mutations was detected in parents; thus, they had probably arisen de novo. In contrast, two normal variants, one intron deletion and one silent mutation, were seen singly only in two patients' mothers; neither has been reported previously. One patient showed two different mutations closely located, i.e. 802C > T (R268W) together with 808C > T (R270X). Another patient had a mutation in the stop codon 1459T > C (X487R), leading to a gene product prolonged with 27 amino acids. In conclusion, our results indicate that the majority of Swedish RS patients (81%) havemutations in MECP2 that are sporadic cases with de novo mutations. Moreover, both missense and nonsense mutations occur, but in different parts of the gene, probably reflecting the function of the domains in MeCP2. This study has improved our ability to offer these families an early confirmation ofRett diagnoses.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 18/01/20 alle ore 21:36:29