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Titolo:
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome
Autore:
Inui, K; Akagi, M; Ono, J; Tsukamoto, H; Shimono, K; Mano, T; Imai, K; Yamada, M; Muramatsu, T; Sakai, N; Okada, S;
Indirizzi:
Osaka Univ, Grad Sch Med, Dept Dev Med Pediat, Suita, Osaka 5650871, JapanOsaka Univ Suita Osaka Japan 5650871 Pediat, Suita, Osaka 5650871, Japan Wakayama Univ, Dept Educ, Wakayama, Japan Wakayama Univ Wakayama JapanWakayama Univ, Dept Educ, Wakayama, Japan
Titolo Testata:
BRAIN & DEVELOPMENT
fascicolo: 4, volume: 23, anno: 2001,
pagine: 212 - 215
SICI:
0387-7604(200107)23:4<212:MAOMIJ>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
GIRLS; GENE;
Keywords:
Rett syndrome; mutational analysis; methyl-CpG-binding protein 2 gene; diagnostic criteria;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Inui, K Osaka Univ, Grad Sch Med, Dept Dev Med Pediat, 2-2 Yamadaoka, Suita, Osaka5650871, Japan Osaka Univ 2-2 Yamadaoka Suita Osaka Japan 5650871 a5650871, Japan
Citazione:
K. Inui et al., "Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome", BRAIN DEVEL, 23(4), 2001, pp. 212-215

Abstract

Rett syndrome (RTT) is one of the most common neurodevelopmental disordersin females. Recently, this disease was found to be linked with mutations in the methyl-CpG-binding protein 2 gene (MECP2) and various mutations have been reported. To explore the spectrum of phenotypes resulting from MECP2 mutations, wt: searched for mutations in the MECP2 of 20 Japanese patients who had more than five of the criteria necessary for RTT diagnosis proposed in 1988 (The Rett Syndrome Diagnostic Criteria Work Group, Ann Neurol 23 (1988) 425) and compared the phenotype between patients with and without mutation by giving a score to each diagnostic criterion. We found four missensemutations (T158M. R133C, Y120D, and R306C), two nonsense mutations (R168X and R270X), one frameshift (726delAAAG) mutation, and one polymorphism (A201V) in ten patients (50%). This included two novel mutations (726delAAAG and Y120D). All mutations were found in the highly conserved methyl-binding and transcription repression domains. Comparison of the mean total diagnostic criterion score of the groups with and without mutation did not reveal any statistically significantly difference (P = 0.28). The only difference between the groups, which was of borderline significance (P = 0.051), was thesum of the scores for diagnostic criteria 2 (apparently normal psychomotordevelopment through the first 6 months) and 5 (loss of acquired purposefulhand skills between the ages of 6 and 30 months). From these results, it is suggested that the clinical phenotype of RTT is variable and it is important to investigate the MECP2 genotype for patients having more than five criteria and not only in those who exhibit all RTT diagnostic criteria. The diagnosis of RTT is clinically difficult before 3 years of age, especially in atypical cases, but molecular analysis of the MECP2 will assist diagnosisin some patients. (C) 2001 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/01/20 alle ore 16:48:51