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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Sequence
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Brain / growth & development*
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Brain / metabolism
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Child
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Cohort Studies
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Female
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Forkhead Transcription Factors / chemistry
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Forkhead Transcription Factors / genetics*
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Humans
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In Situ Hybridization
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Models, Molecular
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Molecular Sequence Data
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Mutation
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Nerve Tissue Proteins / chemistry
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Nerve Tissue Proteins / genetics*
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Protein Conformation
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Protein Denaturation
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Protein Folding
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Repressor Proteins / genetics*
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Rett Syndrome / diagnosis
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Rett Syndrome / genetics*
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Transcription, Genetic
Substances
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FOXG1 protein, human
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Forkhead Transcription Factors
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Nerve Tissue Proteins
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Repressor Proteins