FOXP2 Is Not a Major Susceptibility Gene for Autism or Specific Language Impairment
AUTOR(ES)
Newbury, D. F.
FONTE
The American Society of Human Genetics
RESUMO
The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription factor containing a polyglutamine tract and a forkhead domain. FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case. Several studies of autistic disorder have demonstrated linkage to a similar region of 7q (the AUTS1 locus), leading to the proposal that a single genetic factor on 7q31 contributes to both autism and language disorders. In the present study, we directly evaluate the impact of the FOXP2 gene with regard to both complex language impairments and autism, through use of association and mutation screening analyses. We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=447606Documentos Relacionados
- A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21
- Language profiles in Autism Spectrum Disorders (ASD), Specific Language Impairment (SLI) and Attention Deficit Hyperactivity Disorder (ADHD)
- Evidence for a Susceptibility Gene for Autism on Chromosome 2 and for Genetic Heterogeneity
- A expressão do FOXP2 : uma introdução ao estudo das relações entre genes e linguagem
- A hyphal-specific chitin synthase gene (CHS2) is not essential for growth, dimorphism, or virulence of Candida albicans.