Deciphering the genetic basis of speech and language disorders.
A significant number of individuals have unexplained difficulties with acquiring normal speech and language, despite adequate intelligence and environmental stimulation. Although developmental disorders of speech and language are heritable, the genetic basis is likely to involve several, possibly many, different risk factors. Investigations of a unique three-generation family showing monogenic inheritance of speech and language deficits led to the isolation of the first such gene on chromosome 7, which encodes a transcription factor known as FOXP2. Disruption of this gene causes a rare severe speech and language disorder but does not appear to be involved in more common forms of language impairment. Recent genome-wide scans have identified at least four chromosomal regions that may harbor genes influencing the latter, on chromosomes 2, 13, 16, and 19. The molecular genetic approach has potential for dissecting neurological pathways underlying speech and language disorders, but such investigations are only just beginning.
Fisher
Simon E
SE
Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Headington, Oxford OX3 7BN, United Kingdom. simon.fisher@well.ox.ac.uk
Lai
Cecilia S L
CS
Monaco
Anthony P
AP
D005192:Family Health; D005260:Female; D051858:Forkhead Transcription Factors; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007806:Language Disorders / Q000145:classification / Q000235:genetics*; D008297:Male; D010375:Pedigree; D040641:Quantitative Trait Loci; D012097:Repressor Proteins / Q000235:genetics / Q000502:physiology; D013064:Speech Disorders / Q000235:genetics*; D014157:Transcription Factors
C465448:FOXP2 protein, human; D051858:Forkhead Transcription Factors; D012097:Repressor Proteins; D014157:Transcription Factors