Molecular genetics of Rett syndrome.
Neurochem Int
; 38(6): 503-8, 2001 May.
Article
em En
| MEDLINE
| ID: mdl-11248398
ABSTRACT
Rett syndrome is a neurodevelopmental disorder affecting almost exclusively females. It affects approximately one in 15000 females and is characterized by a loss of purposeful hand use, autism, ataxia and seizure. The disorder is usually sporadic, but rare familial cases have also been reported. Recently it has been shown that familial cases are an X-linked dominant disorder and the disease locus maps to Xq28. A candidate gene called methyl-CpG-binding protein 2 was identified from the Xq28 region and was shown to contain mutations in about 77% of Rett syndrome patients. Since the encoded protein was previously shown to be a global transcriptional repressor, undesired expression of yet unidentified genes that are normally repressed is considered to be pathogenic in Rett syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Rett
Limite:
Humans
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article