Rett syndrome in females with CTS hot spot deletions: a disorder profile.
Am J Med Genet A
; 132A(2): 117-20, 2005 Jan 15.
Article
en En
| MEDLINE
| ID: mdl-15578576
ABSTRACT
From a series of 107 females with Rett syndrome (RTT), we describe the long-term history of ten females with a deletion in the C-terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in the C-terminus, dystonia is present from childhood and results in a serious spine deformation in spite of preventive measures. Their adaptive behavior is surprisingly better preserved and in contrast with the typical decline in motor functioning. The delineation of disorder profiles by long-term clinical observation can teach us about genotype/phenotype relationships and eventually about the effect of epigenetic phenomena on the final phenotype.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteínas Represoras
/
Proteínas Cromosómicas no Histona
/
Síndrome de Rett
/
Eliminación de Gen
/
Proteínas de Unión al ADN
Límite:
Adult
/
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2005
Tipo del documento:
Article
País de afiliación:
Bélgica