A functional genetic link between distinct developmental language disorders.

ABSTRACT:

Background

Rare mutations affecting the FOXP2 transcription factor cause a monogenic speech and language disorder. We hypothesized that neural pathways downstream of FOXP2 influence more common phenotypes, such as specific language impairment.

Methods

We performed genomic screening for regions bound by FOXP2 using chromatin immunoprecipitation, which led us to focus on one particular gene that was a strong candidate for involvement in language impairments. We then tested for associations between single-nucleotide polymorphisms (SNPs) in this gene and language deficits in a well-characterized set of 184 families affected with specific language impairment.

Results

We found that FOXP2 binds to and dramatically down-regulates CNTNAP2, a gene that encodes a neurexin and is

SUBMITTER: Vernes SC 

PROVIDER: S-EPMC2756409 | biostudies-literature | 2008 Nov

REPOSITORIES: biostudies-literature