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Genetics Home Reference: your guide to understanding genetic conditions
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FOXG1

Reviewed December 2013

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 the largest part of the brain (the cerebrum), which controls 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?

FOXG1 syndrome - caused by mutations in the FOXG1 gene

Changes involving the FOXG1 gene cause FOXG1 syndrome, a rare disorder characterized by impaired development and structural brain abnormalities. This condition was previously described as a congenital variant of Rett syndrome, which is a similar disorder of early development. However, doctors and researchers have identified some important differences between the two conditions, so now FOXG1 syndrome is usually considered to be distinct from Rett syndrome.

At least 11 mutations within the FOXG1 gene have been identified in people with FOXG1 syndrome. The condition can also result from a deletion of genetic material from a region of the long (q) arm of chromosome 14 that includes the FOXG1 gene and several neighboring genes. All of these genetic changes prevent the production of forkhead box G1 or impair the protein's function. A shortage of this protein disrupts normal brain development starting before birth, which appears to underlie the brain malformations and severe developmental problems characteristic of FOXG1 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. These duplications are associated with recurrent seizures (epilepsy) 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 epilepsy that begins in infancy, severe to profound intellectual disability, and related brain abnormalities. Although the mechanism is unclear, researchers believe that the extra genetic material leads to these developmental problems by altering early brain development.

Where is the FOXG1 gene located?

Cytogenetic Location: 14q13

Molecular Location on chromosome 14: base pairs 28,767,071 to 28,770,276

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 28,767,071 to base pair 28,770,276 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.

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

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?

cerebrum ; chromosome ; congenital ; deletion ; disability ; duplication ; embryonic ; epilepsy ; gene ; oncogene ; perception ; protein ; repressor ; syndrome ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • 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)
  • De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F. Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics. Clin Genet. 2012 Oct;82(4):395-403. doi: 10.1111/j.1399-0004.2011.01810.x. Epub 2011 Dec 13. (http://www.ncbi.nlm.nih.gov/pubmed/22091895?dopt=Abstract)
  • Florian C, Bahi-Buisson N, Bienvenu T. FOXG1-Related Disorders: From Clinical Description to Molecular Genetics. Mol Syndromol. 2012 Apr;2(3-5):153-163. Epub 2011 Apr 29. (http://www.ncbi.nlm.nih.gov/pubmed/22670136?dopt=Abstract)
  • 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)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/2290)
  • 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: December 2013
Published: July 27, 2015