URL of this page: https://medlineplus.gov/genetics/gene/foxg1/

FOXG1 gene

forkhead box G1
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Normal Function

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.

Health Conditions Related to Genetic Changes

FOXG1 syndrome

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.

More About This Health Condition

Lennox-Gastaut syndrome

MedlinePlus Genetics provides information about Lennox-Gastaut syndrome

More About This Health Condition

Other disorders

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.

Other Names for This Gene

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed or Free article on PubMed Central
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
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