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    Am J Hum Genet. 2008 Jul;83(1):89-93. Epub 2008 Jun 19.

    FOXG1 is responsible for the congenital variant of Rett syndrome.

    Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A.

    Medical Genetics, Molecular Biology Department, University of Siena, 53100 Siena, Italy.

    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.

    PMID: 18571142 [PubMed - indexed for MEDLINE]

    PMCID: 2443837

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