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A forkhead-domain gene is mutated in a severe speech and language disorder
- Cecilia S. L. Lai, S. Fisher, J. Hurst, F. Vargha-Khadem, A. Monaco
- Biology, PsychologyNature
- 4 October 2001
It is suggested that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is involved in the developmental process that culminates in speech and language.
Molecular evolution of FOXP2, a gene involved in speech and language
It is shown that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.
A functional genetic link between distinct developmental language disorders.
The FOXP2-CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language, and is found to be associated with language delays in children with autism.
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
The results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs.
A genomewide scan for loci involved in attention-deficit/hyperactivity disorder.
This is the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a approximately 10-cM grid of microsatellite markers and indicates that there is unlikely to be a major gene involved in ADHD susceptibility in this sample.
Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia
A combined analysis of all UK families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes, and is the first report of QTL-based genome-wide scanning for a human cognitive trait.
A Humanized Version of Foxp2 Affects Cortico-Basal Ganglia Circuits in Mice
A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.
The association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319, which has no significant impact on general cognitive performance in these samples.
A common molecular basis for three inherited kidney stone diseases
Investigation of 11 kindreds with renal tubular disorders for CLCN5 abnormalities identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one micro-deletion encompassing the entire gene.
A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia.
The findings indicate that the QTL affects both phonological and orthographic skills and is not specific to phoneme awareness, as has been previously suggested.