FOXG1 is responsible for the congenital variant of Rett syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 18571142.
- Also identified by DOI 10.1016/j.ajhg.2008.05.015 and PMC identifier 2443837.
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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.
Medical subject headings
- Brain
- Forkhead Transcription Factors
- Nerve Tissue Proteins
- Repressor Proteins
- Rett Syndrome