Das Rett-Syndrom: Klinische und molekulargenetische Befunde bei vier betroffenen Mädchen

Autor:	K Reichwald, L Bergmann, K Tefs, J Deutscher, K Deutscher, V Schuster
Rok vydání:	2002
Předmět:	medicine.medical_specialty Pediatrics Follow up studies Rett syndrome Biology medicine.disease Central nervous system disease Developmental disorder Degenerative disease Endocrinology El Niño Internal medicine Pediatrics Perinatology and Child Health medicine Missense mutation X chromosome
Zdroj:	Klinische Pädiatrie. 214:291-294
ISSN:	1439-3824 0300-8630
DOI:	10.1055/s-2002-34016
Popis:	We report on four mental retarded girls with typical clinical signs of Rett syndrome. Rett syndrome is an X-linked neurodevelopment disorder which develops after a period of normal development at the age of 6 to 18 months, affecting 1/10 000 - 15 000 girls. Recently, the MeCP2-gene encoding the methyl-CpG-binding protein 2 has been shown to be mutated in 80 percent of girls with Rett Syndrome, studied so far. In our patients with Rett syndrome two common mutations of the MeCP2-gene, R168X (n=2) and T158M were found. In the 4th patient a novel "missense" mutation R294G was identified.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::f957ca94634238a355a3a4336e9023e2 https://doi.org/10.1055/s-2002-34016 Zobrazit plný text záznamu