| FOXG1 is responsible for the congenital variant of Rett syndrome. | |
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MedLine Citation:
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PMID: 18571142 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-06-19 |
Journal Detail:
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Title: American journal of human genetics Volume: 83 ISSN: 1537-6605 ISO Abbreviation: Am. J. Hum. Genet. Publication Date: 2008 Jul |
Date Detail:
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Created Date: 2008-07-08 Completed Date: 2008-07-29 Revised Date: 2011-11-24 |
Medline Journal Info:
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Nlm Unique ID: 0370475 Medline TA: Am J Hum Genet Country: United States |
Other Details:
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Languages: eng Pagination: 89-93 Citation Subset: IM |
Affiliation:
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Medical Genetics, Molecular Biology Department, University of Siena, 53100 Siena, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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GTB07001//Telethon |
| Chemical | |
Reg. No./Substance:
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0/FOXG1 protein, human; 0/Forkhead Transcription Factors; 0/Nerve Tissue Proteins; 0/Repressor Proteins |
| Comments/Corrections | |
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