FOXG1 is responsible for the congenital variant of Rett syndrome.
Am J Hum Genet
; 83(1): 89-93, 2008 Jul.
Article
en En
| MEDLINE
| ID: mdl-18571142
ABSTRACT
Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome. FOXG1 encodes a brain-specific transcriptional repressor that is essential for early development of the telencephalon. Molecular analysis revealed that Foxg1 might also share common molecular mechanisms with MeCP2 during neuronal development, exhibiting partially overlapping expression domain in postnatal cortex and neuronal subnuclear localization.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Proteínas Represoras
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Encéfalo
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Síndrome de Rett
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Factores de Transcripción Forkhead
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Proteínas del Tejido Nervioso
Tipo de estudio:
Diagnostic_studies
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Etiology_studies
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Incidence_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Adult
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Child
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Female
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Humans
Idioma:
En
Revista:
Am J Hum Genet
Año:
2008
Tipo del documento:
Article
País de afiliación:
Italia