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Genetics Home Reference: your guide to understanding genetic conditions
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FOXG1

Reviewed October 2011

What is the official name of the FOXG1 gene?

The official name of this gene is “forkhead box G1.”

FOXG1 is the gene's official symbol. The FOXG1 gene is also known by other names, listed below.

What is the normal function of the FOXG1 gene?

The FOXG1 gene provides instructions for making a protein known as forkhead box G1. This protein is a transcription factor, which means it helps regulate the activity of other genes. Specifically, the forkhead box G1 protein acts as a transcriptional repressor, turning off (repressing) the activity of certain genes when they are not needed. Researchers believe that this protein plays an important role in brain development, particularly in a region of the embryonic brain known as the telencephalon. The telencephalon ultimately develops into several critical structures, including the two cerebral hemispheres (which control most voluntary activity, language, sensory perception, learning, and memory).

Does the FOXG1 gene share characteristics with other genes?

The FOXG1 gene belongs to a family of genes called FOX (forkhead box genes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the FOXG1 gene related to health conditions?

Rett syndrome - caused by mutations in the FOXG1 gene

At least 18 mutations in the FOXG1 gene have been found to cause the congenital variant of Rett syndrome. This rare condition is characterized by severe intellectual disability, abnormally small head size (microcephaly), jerky limb movements, seizures, and absent language. The signs and symptoms of the congenital variant become apparent in early infancy; unlike the classic form of Rett syndrome, there is no early period of apparently normal development.

Most of the identified FOXG1 gene mutations prevent the production of any functional forkhead box G1 protein. A few other mutations change single protein building blocks (amino acids) in a critical region of the protein. Studies suggest that a loss of forkhead box G1 function disrupts normal brain development, leading to intellectual disability and the other features of the congenital variant of Rett syndrome.

other disorders - caused by mutations in the FOXG1 gene

A few people have been found to have an extra copy (duplication) of the part of chromosome 14 that contains the FOXG1 gene. People with these duplications have had recurrent seizures or spasms starting in infancy, intellectual disability, and severe speech impairment. Duplications of the FOXG1 gene have also been identified in several infants diagnosed with West syndrome, a condition characterized by recurrent seizures that begin in infancy, severe to profound intellectual disability, and related brain abnormalities.

Where is the FOXG1 gene located?

Cytogenetic Location: 14q13

Molecular Location on chromosome 14: base pairs 29,236,277 to 29,239,482

The FOXG1 gene is located on the long (q) arm of chromosome 14 at position 13.

The FOXG1 gene is located on the long (q) arm of chromosome 14 at position 13.

More precisely, the FOXG1 gene is located from base pair 29,236,277 to base pair 29,239,482 on chromosome 14.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about FOXG1?

You and your healthcare professional may find the following resources about FOXG1 helpful.

  • Educational resources - Information pages
    Madame Curie Bioscience Database: Overview of Telencephalic Development (http://www.ncbi.nlm.nih.gov/books/NBK6463/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for FOXG1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=2290%5Bgeneid%5D)

You may also be interested in these resources, which are designed for genetics professionals and researchers.

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((FOXG1%5BTIAB%5D)%20OR%20(forkhead%20box%20G1%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/164874)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_FOXG1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2290)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=2290)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=3811)

What other names do people use for the FOXG1 gene or gene products?

  • BF1
  • BF2
  • brain factor 1
  • brain factor 2
  • FHKL3
  • FKH2
  • forkhead box protein G1
  • FOXG1A
  • FOXG1B
  • FOXG1C
  • FOXG1_HUMAN
  • HBF-1
  • HBF2
  • HBF-2
  • HBF-3
  • HBF-G2
  • HFK1
  • HFK2
  • HFK3
  • KHL2
  • oncogene QIN
  • QIN

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding FOXG1?

acids ; chromosome ; congenital ; critical region ; duplication ; embryonic ; gene ; microcephaly ; oncogene ; perception ; protein ; repressor ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A. FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008 Jul;83(1):89-93. doi: 10.1016/j.ajhg.2008.05.015. Epub 2008 Jun 19. (http://www.ncbi.nlm.nih.gov/pubmed/18571142?dopt=Abstract)
  • Bahi-Buisson N, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N, Plouin P, Rio M, Fichou Y, Chelly J, Bienvenu T. Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6. (http://www.ncbi.nlm.nih.gov/pubmed/19806373?dopt=Abstract)
  • Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. Eur J Hum Genet. 2011 Jan;19(1):102-7. doi: 10.1038/ejhg.2010.142. Epub 2010 Aug 25. (http://www.ncbi.nlm.nih.gov/pubmed/20736978?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/2290)
  • Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun;48(6):396-406. doi: 10.1136/jmg.2010.087528. Epub 2011 Mar 25. (http://www.ncbi.nlm.nih.gov/pubmed/21441262?dopt=Abstract)
  • Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. (http://www.ncbi.nlm.nih.gov/pubmed/19578037?dopt=Abstract)
  • Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, Minetti C, Zara F. West syndrome associated with 14q12 duplications harboring FOXG1. Neurology. 2011 May 3;76(18):1600-2. doi: 10.1212/WNL.0b013e3182194bbf. (http://www.ncbi.nlm.nih.gov/pubmed/21536641?dopt=Abstract)
  • Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14. Am J Med Genet A. 2011 Oct;155A(10):2584-8. doi: 10.1002/ajmg.a.34224. Epub 2011 Sep 9. (http://www.ncbi.nlm.nih.gov/pubmed/21910242?dopt=Abstract)
  • Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet. 2009 Nov-Dec;52(6):440-2. doi: 10.1016/j.ejmg.2009.09.004. Epub 2009 Sep 20. (http://www.ncbi.nlm.nih.gov/pubmed/19772934?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2011
Published: May 20, 2013