AI Article Synopsis
- Rett syndrome is linked to mutations in the MeCP2 gene and is a serious neurodevelopmental disorder.
- Researchers discovered FOXG1-truncating mutations in two patients with the congenital variant of Rett syndrome.
- FOXG1 plays a crucial role in brain development and may share similar mechanisms with MeCP2 in neuronal development.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2443837 | PMC |
| http://dx.doi.org/10.1016/j.ajhg.2008.05.015 | DOI Listing |
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