Ontology highlight
ABSTRACT:
SUBMITTER: Ariani F
PROVIDER: S-EPMC2443837 | biostudies-literature | 2008 Jul
REPOSITORIES: biostudies-literature
Ariani Francesca F Hayek Giuseppe G Rondinella Dalila D Artuso Rosangela R Mencarelli Maria Antonietta MA Spanhol-Rosseto Ariele A Pollazzon Marzia M Buoni Sabrina S Spiga Ottavia O Ricciardi Sara S Meloni Ilaria I Longo Ilaria I Mari Francesca F Broccoli Vania V Zappella Michele M Renieri Alessandra A
American journal of human genetics 20080619 1
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 ...[more]