Document Detail


FOXG1 is responsible for the congenital variant of Rett syndrome.
MedLine Citation:
PMID:  18571142     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Francesca Ariani; Giuseppe Hayek; Dalila Rondinella; Rosangela Artuso; Maria Antonietta Mencarelli; Ariele Spanhol-Rosseto; Marzia Pollazzon; Sabrina Buoni; Ottavia Spiga; Sara Ricciardi; Ilaria Meloni; Ilaria Longo; Francesca Mari; Vania Broccoli; Michele Zappella; Alessandra Renieri
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-06-19
Journal Detail:
Title:  American journal of human genetics     Volume:  83     ISSN:  1537-6605     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-07-08     Completed Date:  2008-07-29     Revised Date:  2011-11-24    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  89-93     Citation Subset:  IM    
Affiliation:
Medical Genetics, Molecular Biology Department, University of Siena, 53100 Siena, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adult
Amino Acid Sequence
Brain / growth & development*,  metabolism
Child
Cohort Studies
Female
Forkhead Transcription Factors / chemistry,  genetics*
Humans
In Situ Hybridization
Models, Molecular
Molecular Sequence Data
Mutation
Nerve Tissue Proteins / chemistry,  genetics*
Protein Conformation
Protein Denaturation
Protein Folding
Repressor Proteins / genetics*
Rett Syndrome / diagnosis,  genetics*
Transcription, Genetic
Grant Support
ID/Acronym/Agency:
GTB07001//Telethon
Chemical
Reg. No./Substance:
0/FOXG1 protein, human; 0/Forkhead Transcription Factors; 0/Nerve Tissue Proteins; 0/Repressor Proteins
Comments/Corrections

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