Article
FOXG1 is responsible for the congenital variant of Rett syndrome.
American journal of human genetics - 1 Jul 2008
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
Abstract excerpt
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...
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