Novel double deletions in the MECP2 gene in Tunisian Rett patient.
Gene
; 502(2): 163-7, 2012 Jul 10.
Article
en En
| MEDLINE
| ID: mdl-22561697
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting almost exclusively girls. Rett patients present an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they show a short period of developmental stagnation followed by a rapid regression in language and motor development. RTT is currently considered as monogenic X-linked dominant disorder due to mutations in the MECP2 gene, encoding the methyl-CpG binding protein 2. The aim of this study was to perform a mutational analysis of the MECP2 gene in a classical Rett patient.The results showed the presence of a novel point mutation c.C1142T (p.P381L) and two deletions at the heterozygous state: a novel deletion c.1075delTTC (p.S359) and a known one c.1157del44 (p.L386Q fs X2) in the C-terminal region of MeCP2.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Rett
/
Eliminación de Secuencia
/
Mutación Puntual
/
Proteína 2 de Unión a Metil-CpG
Tipo de estudio:
Observational_studies
Límite:
Female
/
Humans
/
Middle aged
País/Región como asunto:
Africa
Idioma:
En
Revista:
Gene
Año:
2012
Tipo del documento:
Article
País de afiliación:
Túnez
Pais de publicación:
Países Bajos