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Titolo:
Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions
Autore:
Laccone, F; Huppke, P; Hanefeld, F; Meins, M;
Indirizzi:
Univ Gottingen, Inst Human Genet, D-37073 Gottingen, Germany Univ Gottingen Gottingen Germany D-37073 net, D-37073 Gottingen, Germany Univ Gottingen, Sch Med, Neuropediat Dept, D-37073 Gottingen, Germany UnivGottingen Gottingen Germany D-37073 ept, D-37073 Gottingen, Germany
Titolo Testata:
HUMAN MUTATION
fascicolo: 3, volume: 17, anno: 2001,
pagine: 183 - 190
SICI:
1059-7794(2001)17:3<183:MSIPWR>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
CPG-BINDING PROTEIN-2; MENTAL-RETARDATION; SEQUENCE-ANALYSIS; METHYLATED DNA; MECP2; PREVALENCE; PATTERN; GIRLS; GENE;
Keywords:
methyl-CpG-binding protein 2; MECP2; Rett syndrome; RTT; secondary structure; RNA; hotspot; mutation spectrum; Germany;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Laccone, F Univ Gottingen, Inst Human Genet, Heinrich Dueker Weg 12, D-37073 Gottingen, Germany Univ Gottingen Heinrich Dueker Weg 12 Gottingen Germany D-37073
Citazione:
F. Laccone et al., "Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions", HUM MUTAT, 17(3), 2001, pp. 183-190

Abstract

Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty different mutations were found in 97 patients with Rett syndrome. Seventeen mutations have not been described previously. We provide evidence for the existence of several hot spot regions and of a deletion-prone region located at the 3' most region of the gene. This latter region most probably forms secondary structures in vitro. Similar structures in vivo could explain the high frequency of deletions in this region. Nine of 10 recurrent mutations were located in either the methyl CpG binding domain(MBD) or in the transcriptional regression domain (TRD), and all missense mutations were located in one of these functionally important domains. There was a high frequency of more than 60% of truncating mutations (nonsense mutations along with frameshift mutations). One patient with a mild form of the disease and a normal head growth carries a novel c.27-6C>A mutation that causes a cryptic splice site in intron I resulting in a frameshift transcript. The detection rate in our collective was 77.6%. Our findings show that the majority of German Rett patients carry mutations in the MECP2 gene confirming the suggested locus homogeneity for the disease. Hum Mutat 17:183-190, 2001, (C) 2001 Wiley Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 09:16:42