ArticleMolecular cytogenetics2015
A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer.
Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disruptingJournal of medical genetics · 2023Article
- A 9.8 Mb deletion at 7q31.2q31.31 downstream ofClinical case reports · 2022Article
- Positive selection in noncoding genomic regions of vocal learning birds is associated with genes implicated in vocal learning and speech functions in humans.Genome research · 2021Article
- Functional characterization of two enhancers located downstream FOXP2.BMC medical genetics · 2019Article
- Mapping of HumanFrontiers in molecular neuroscience · 2018Article
- Layer-specific chromatin accessibility landscapes reveal regulatory networks in adult mouse visual cortex.eLife · 2017Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.