Abstract
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.
Highlights
Mutations of FOXP2 in 7q31 cause a rare disorder involving speech apraxia, accompanied by expressive and receptive language impairments
Moralli et al recently described a child with a complex chromosomal rearrangement affecting chromosome 7 and 11, showing severe speech and language problems, similar to the profile typically seen for FOXP2 mutation cases [11]
The chromosome 7q31 breakpoint was mapped to a position 205 kb downstream
Summary
Mutations of FOXP2 in 7q31 cause a rare disorder involving speech apraxia, accompanied by expressive and receptive language impairments. Mutations and chromosomal rearrangements that disrupt the FOXP2 coding sequencing cause childhood apraxia of speech (CAS) [ known as developmental verbal dyspraxia (DVD)], as well as expressive and receptive deficits in both spoken and written language [1–10]. Moralli et al were not able to reliably determine if the breakpoint affected FOXP2 regulation, because this gene shows very low expression in fibroblasts.
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