Home > A. Molecular pathology > FOXP2

FOXP2

Thursday 25 September 2003

Definition: FOXP2 is a member of the FOXPs protein family.

Pathology

- germline mutations in FOXP2 cause developmental verbal dyspraxia (DVD).

  • FOXP2 (forkhead box P2) was the first gene characterized in which a mutation affects human speech and language abilities. Locus: 7q31
  • Differential parent-of-origin expression of FOXP2 in human speech development.

- specific language impairment (12721956, 15877281)

  • FOXP2 is the first gene to have been implicated in a developmental communication disorder.
  • A heterozygous missense mutation in FOXP2 causes problems in sequencing muscle movements required for articulating speech (developmental verbal dyspraxia), accompanied by wider deficits in linguistic and grammatical processing.

- DLBCL

  • FOXP2-positive diffuse large B-cell lymphomas exhibit a poor response to R-CHOP therapy and distinct biological signatures. (27224915)

See also

- FOXs

Open references

- FOXP2-positive diffuse large B-cell lymphomas exhibit a poor response to R-CHOP therapy and distinct biological signatures.
Wong KK, Gascoyne DM, Soilleux EJ, Lyne L, Spearman H, Roncador G, Pedersen LM, Møller MB, Green TM, Banham AH.
Oncotarget. 2016 May 20. doi : 10.18632/oncotarget.9507 [Epub ahead of print]
PMID: 27224915 (Free)

Reviews

- Vargha-Khadem F, Gadian DG, Copp A, Mishkin M. FOXP2 and the neuroanatomy of speech and language. Nat Rev Neurosci. 2005 Feb;6(2):131-8. PMID: 15685218

References

- Vernes SC, Spiteri E, Nicod J, Groszer M, Taylor JM, Davies KE, Geschwind DH, Fisher SE. High-Throughput Analysis of Promoter Occupancy Reveals Direct Neural Targets of FOXP2, a Gene Mutated in Speech and Language Disorders. Am J Hum Genet. 2007 Dec;81(6):1232-50. Epub 2007 Oct 31. PMID: 17999362

- Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006 Nov;79(5):965-72. PMID: 17033973