title: A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer.
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.
authors: Max Planck Institute for Psycholinguistics, PO Box 310, Nijmegen, 6500 AH The Netherlands.
authors: Martin
authors: M
authors: Becker
authors: Max Planck Institute for Psycholinguistics, PO Box 310, Nijmegen, 6500 AH The Netherlands.
authors: Paolo
authors: P
authors: Devanna
authors: Max Planck Institute for Psycholinguistics, PO Box 310, Nijmegen, 6500 AH The Netherlands ; Donders Institute for Brain, Cognition and Behaviour, Geert Grootplein Noord 21, Nijmegen, 6525 EZ The Netherlands.
authors: Simon E
authors: SE
authors: Fisher
authors: Max Planck Institute for Psycholinguistics, PO Box 310, Nijmegen, 6500 AH The Netherlands ; Donders Institute for Brain, Cognition and Behaviour, Geert Grootplein Noord 21, Nijmegen, 6525 EZ The Netherlands.
authors: Sonja C
authors: SC
authors: Vernes