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.
Medical Genetics, Molecular Biology Department, University of Siena, 53100 Siena, Italy.
Francesca
F
Ariani
Giuseppe
G
Hayek
Dalila
D
Rondinella
Rosangela
R
Artuso
Maria Antonietta
MA
Mencarelli
Ariele
A
Spanhol-Rosseto
Marzia
M
Pollazzon
Sabrina
S
Buoni
Ottavia
O
Spiga
Sara
S
Ricciardi
Ilaria
I
Meloni
Ilaria
I
Longo
Francesca
F
Mari
Vania
V
Broccoli
Michele
M
Zappella
Alessandra
A
Renieri
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