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

Martin Becker, Paolo Devanna, Simon E Fisher, Sonja C Vernes

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)69
JournalMolecular cytogenetics
Volume8
DOIs
Publication statusPublished - 2015

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