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.

FOXG1 is responsible for the congenital variant of Rett syndrome / F. Ariani, G. Hayek, D. Rondinella, R. Artuso, M. Mencarelli, A. Spanhol-Rosseto, M. Pollazzon, S. Buoni, O. Spiga, S. Ricciardi, I. Meloni, I. Longo, F. Mari, V. Broccoli, M. Zappella, A. Renieri. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - 83:1(2008), pp. 89-93.

FOXG1 is responsible for the congenital variant of Rett syndrome

Ricciardi S;
2008

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.
Settore BIO/06 - Anatomia Comparata e Citologia
Settore MED/03 - Genetica Medica
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/657509
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