FOXG1 is responsible for the congenital variant of Rett syndrome by Ariani Francesca, Hayek Giuseppe, Rondinella Dalila, Artuso Rosangela, Mencarelli Maria Antonietta, Spanhol-Rosseto Ariele, Pollazzon Marzia, Buoni Sabrina, Spiga Ottavia, Ricciardi Sara, Meloni Ilaria, Longo Ilaria, Mari Francesca, Broccoli Vania, Zappella Michele, Renieri Alessandra in American journal of human genetics (2008).

[PMID: 18571142] PubMed


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.

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