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

Overview of attention for article published in Molecular Cytogenetics, August 2015
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  • Above-average Attention Score compared to outputs of the same age (51st percentile)
  • Above-average Attention Score compared to outputs of the same age and source (61st percentile)

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Title
A chromosomal rearrangement in a child with severe speech and language disorder separates FOXP2 from a functional enhancer
Published in
Molecular Cytogenetics, August 2015
DOI 10.1186/s13039-015-0173-0
Pubmed ID
Authors

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

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.

X Demographics

X Demographics

The data shown below were collected from the profiles of 5 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 38 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 3%
Unknown 37 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 8 21%
Student > Ph. D. Student 7 18%
Student > Bachelor 5 13%
Student > Doctoral Student 4 11%
Student > Master 3 8%
Other 7 18%
Unknown 4 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 13 34%
Biochemistry, Genetics and Molecular Biology 7 18%
Nursing and Health Professions 4 11%
Psychology 3 8%
Sports and Recreations 2 5%
Other 4 11%
Unknown 5 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 October 2016.
All research outputs
#13,445,400
of 22,824,164 outputs
Outputs from Molecular Cytogenetics
#99
of 402 outputs
Outputs of similar age
#125,646
of 265,958 outputs
Outputs of similar age from Molecular Cytogenetics
#5
of 13 outputs
Altmetric has tracked 22,824,164 research outputs across all sources so far. This one is in the 39th percentile – i.e., 39% of other outputs scored the same or lower than it.
So far Altmetric has tracked 402 research outputs from this source. They receive a mean Attention Score of 2.4. This one has gotten more attention than average, scoring higher than 73% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 265,958 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 51% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 61% of its contemporaries.