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A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer

Becker, M., Devanna, P., Fisher, S. E., & Vernes, S. C. (2015). A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer. Molecular Cytogenetics, 8: 69. doi:10.1186/s13039-015-0173-0.
Mutations of FOXP2 in 7q31 cause a rare disorder involving speech apraxia, accompanied by expressive and receptive language impairments. A recent report described a child with speech and language deficits, and a genomic rearrangement affecting chromosomes 7 and 11. One breakpoint mapped to 7q31 and, although outside its coding region, was hypothesised to disrupt FOXP2 expression. We identified an element 2 kb downstream of this breakpoint with epigenetic characteristics of an enhancer. We show that this element drives reporter gene expression in human cell-lines. Thus, displacement of this element by translocation may disturb gene expression, contributing to the observed language phenotype.
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The Max Planck Institute for Psycholinguistics is an institute of the German Max Planck Society. Our mission is to undertake basic research into the psychological,social and biological foundations of language. The goal is to understand how our minds and brains process language, how language interacts with other aspects of mind, and how we can learn languages of quite different types.

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