FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
The American Journal of Human GeneticsPublished 20 June 2008Open access
Francesca Ariani, Giuseppe Hayek, Dalila Rondinella, Rosangela Artuso, Maria Antonietta Mencarelli, Ariele Spanhol-Rosseto
Citations434
SJR quartileQ1
SJR score4.53
SNIP2.47
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TL;DR
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.
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.
Keywords
PsychologyNeuroscienceBiochemistry, Genetics and Molecular Biology
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