Thursday 25 September 2003
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.
Mutations in FOXP2 cause developmental verbal dyspraxia (DVD).
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.
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#
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#