Introduction: The FOXP2 gene, located on human  7q31, was recently linked with autism (A) and Asperger syndrome (AS) in association with previous studies and is involved in the development of speech and language. The objective of this study is to investigate whether there are disruptive molecular changes in FOXP2 present in  patients with A and SA and here we present preliminary data from an ongoing study. Methods: We evaluated 98 patients (45 A and 53 SA), aged 3-18 years of both sexes. All were screened for mutations in the FOXP2 gene through DNA sequencing. Results: We identified six single nucleotide polymorphisms (SNP) in 16 probands, two silent (c.1260C>T and c. 570A>G) and four in intron (c. 597+ 17T>G, c.1094+ 17T>C, c. 1647+30C>G and c. 1769+ 67G>A) all being original and not found in 144 chromosomes from normal controls. Conclusions: Silent mutations deserve more detailed investigation because studies have shown that these mutations can lead to profound effects on the production of the transcript. Likewise, SNPs near the intron-exon boundaries may be closely related to the mechanism of splicing. Additional elements (promoters and silencers) are also needed to allow normal splicing in the formation of the transcript which may be close or distant sites of splicing. So far, disruptive mutations in this gene appear to be rare. However, the study of RNA will be required to elucidate whether the changes found so far interfere with transcription, therefore contributing to the pathogenesis of A and SA.

Support: FAPESP 2011/14116-5