FOXG1 is responsible for the 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. 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.
Ariani
Francesca
F
Medical Genetics, Molecular Biology Department, University of Siena, 53100 Siena, Italy.
Hayek
Giuseppe
G
Rondinella
Dalila
D
Artuso
Rosangela
R
Mencarelli
Maria Antonietta
MA
Spanhol-Rosseto
Ariele
A
Pollazzon
Marzia
M
Buoni
Sabrina
S
Spiga
Ottavia
O
Ricciardi
Sara
S
Meloni
Ilaria
I
Longo
Ilaria
I
Mari
Francesca
F
Broccoli
Vania
V
Zappella
Michele
M
Renieri
Alessandra
A
D000328:Adult; D000595:Amino Acid Sequence; D001921:Brain / Q000254:growth & development* / Q000378:metabolism; D002648:Child; D015331:Cohort Studies; D005260:Female; D051858:Forkhead Transcription Factors / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D017403:In Situ Hybridization; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D011487:Protein Conformation; D011489:Protein Denaturation; D017510:Protein Folding; D012097:Repressor Proteins / Q000235:genetics*; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*; D014158:Transcription, Genetic
C090173:FOXG1 protein, human; D051858:Forkhead Transcription Factors; D009419:Nerve Tissue Proteins; D012097:Repressor Proteins