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Titolo:
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome
Autore:
Amano, K; Nomura, Y; Segawa, M; Yamakawa, K;
Indirizzi:
RIKEN, Inst Phys & Chem Res, Brain Sci Inst, Neurogenet Lab, Wako, Saitama35101, Japan RIKEN Wako Saitama Japan 35101 Neurogenet Lab, Wako, Saitama35101, Japan Segawa Neurol Clin Children, Tokyo, Japan Segawa Neurol Clin Children Tokyo Japan rol Clin Children, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 4, volume: 45, anno: 2000,
pagine: 231 - 236
SICI:
1434-5161(2000)45:4<231:MAOTMG>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
HISTONE DEACETYLASE;
Keywords:
Rett syndrome; mental retardation; MECP2 gene; methyl-CpG-binding protein; X chromosome dominant; mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Yamakawa, K RIKEN, Inst Phys & Chem Res, Brain Sci Inst, Neurogenet Lab, 2-1 Hirosawa,Wako, Saitama 35101, Japan RIKEN 2-1 Hirosawa Wako Saitama Japan 35101 itama 35101, Japan
Citazione:
K. Amano et al., "Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome", J HUM GENET, 45(4), 2000, pp. 231-236

Abstract

Rett syndrome is a neurodevelopmental disorder observed almost exclusivelyin girls, and is characterized by autistic tendency, severe mental retardation, stereotyped hand movements, seizures, and acquired microcephaly. Recently, the MECP2 (methyl-CpG-binding protein 2) gene, mapped on chromosome Xq28, was reported to be responsible for Rett syndrome. We performed mutational analysis of the MECP2 gene in 26 Japanese patients with Rett syndrome (who were sporadic cases), and identified disease alleles in 19 patients. The mutations consisted of 12 different types including 3 missense, 3 nonsense, and 6 frameshift mutations. Of these, 8 mutations are novel. Most of these mutations affect the functional domains, methyl CpG binding domain (MBD), and transcriptional repression domain (TRD), and therefore may criticallyaffect the function of MeCP2. The disease phenotype of patients with mutations in the MBD tended to be more severe than the phenotype of those with mutations in the TRD. We also identified 2 types of silent mutations and 4 types of missense mutations as benign variants, and these are all novel ones. Most of the nucleotide substitutions involve C --> T transitions at CpG hotspots. The navel disease alleles and benign variants of the MECP2 gene found in this study should contribute to the establishment of a reliable diagnosis of Rett syndrome.

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Documento generato il 28/01/20 alle ore 21:08:47