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FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
- Source :
- The American Journal of Human Genetics. 83:89-93
- Publication Year :
- 2008
- Publisher :
- Elsevier BV, 2008.
-
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.
- Subjects :
- Adult
Models, Molecular
Protein Denaturation
Protein Folding
Transcription, Genetic
Protein Conformation
Molecular Sequence Data
CDKL5
Repressor
Nerve Tissue Proteins
Rett syndrome
Biology
MECP2
Cohort Studies
Degenerative disease
Report
Rett Syndrome
Genetics
medicine
Humans
Genetics(clinical)
Atypical Rett syndrome
Amino Acid Sequence
Child
Gene
In Situ Hybridization
Genetics (clinical)
Brain
Forkhead Transcription Factors
medicine.disease
Repressor Proteins
FOXG1
nervous system
Mutation
Female
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 83
- Database :
- OpenAIRE
- Journal :
- The American Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....83c860a1534e1cc55e34f47e46fcf6ae