FOXG1 syndrome

Common Name(s)

FOXG1 syndrome, Rett syndrome, congenital variant

The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; {312750}), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene ({300005}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "FOXG1 syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "FOXG1 syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.
 

Author(s): Christophe Goubau, Koen Devriendt, Nathalie Van der Aa, An Crepel, Dagmar Wieczorek, Tjitske Kleefstra, Marjolein H Willemsen, Anita Rauch, Andreas Tzschach, Thomy de Ravel, Peter Leemans, Chris Van Geet, Gunnar Buyse, Kathleen Freson

Journal: Eur. J. Hum. Genet.. 2013 Dec;21(12):1349-55.

 

The Forkhead box G1 (FOXG1) gene encodes a transcriptional repressor essential for early development of the telencephalon. Intragenic mutations and gene deletions leading to haploinsufficiency cause the congenital variant of Rett syndrome. We here describe Rett syndrome-like patients, ...

Last Updated: 14 Nov 2013

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14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
 

Author(s): Carolyn J Ellaway, Gladys Ho, Elisa Bettella, Alisa Knapman, Felicity Collins, Anna Hackett, Fiona McKenzie, Artur Darmanian, Gregory B Peters, Kerry Fagan, John Christodoulou

Journal: Eur. J. Hum. Genet.. 2013 May;21(5):522-7.

 

Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in ∼90-95% of classic cases and 40-60% of individuals with atypical Rett syndrome. Mutations ...

Last Updated: 18 Apr 2013

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[FOXG1, a new gene responsible for the congenital form of Rett syndrome].
 

Author(s): A Roche-Martinez, E Gerotina, J Armstrong-Moron, O Sans-Capdevila, M Pineda

Journal: Rev Neurol. 2011 May;52(10):597-602.

 

Rett syndrome (RS) is a neurodevelopmental disorder that affects girls almost exclusively. The identification of mutations in the MECP2 and CDKL5 genes offers genetic confirmation of the clinical diagnosis. The FOXG1 gene appears to be a novel cause of the congenital variant of RS.

Last Updated: 13 Apr 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "FOXG1 syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
 

Author(s): Francois Dominique Jacob, Vijay Ramaswamy, John Andersen, Francois V Bolduc

Journal: Eur. J. Hum. Genet.. 2009 Dec;17(12):1577-81.

 

Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic ...

Last Updated: 20 Nov 2009

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic and Physical Characteristics of Rett Syndrome
 

Status: Recruiting

Condition Summary: Rett Syndrome, MECP2 Duplication dIsorder, and RTT-related Conditions

 

Last Updated: 11 Dec 2014

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