FOXG1
MIM.164874 14q13
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.
Pathology
FOXG1-truncating mutations in a congenital variant of Rett syndrome.
- Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2.
References
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. FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome. Am J Hum Genet. 2008 Jun 18. PMID: #18571142#