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Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2

Overview of attention for article published in Molecular Cytogenetics, June 2015
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About this Attention Score

  • Among the highest-scoring outputs from this source (#37 of 198)
  • Above-average Attention Score compared to outputs of the same age (57th percentile)
  • Good Attention Score compared to outputs of the same age and source (66th percentile)

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2 tweeters

Citations

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9 Dimensions

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19 Mendeley
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Title
Language impairment in a case of a complex chromosomal rearrangement with a breakpoint downstream of FOXP2
Published in
Molecular Cytogenetics, June 2015
DOI 10.1186/s13039-015-0148-1
Pubmed ID
Authors

Daniela Moralli, Ron Nudel, May T. M. Chan, Catherine M. Green, Emanuela V. Volpi, Antonio Benítez-Burraco, Dianne F. Newbury, Paloma García-Bellido

Abstract

We report on a young female, who presents with a severe speech and language disorder and a balanced de novo complex chromosomal rearrangement, likely to have resulted from a chromosome 7 pericentromeric inversion, followed by a chromosome 7 and 11 translocation. Using molecular cytogenetics, we mapped the four breakpoints to 7p21.1-15.3 (chromosome position: 20,954,043-21,001,537, hg19), 7q31 (chromosome position: 114,528,369-114,556,605, hg19), 7q21.3 (chromosome position: 93,884,065-93,933,453, hg19) and 11p12 (chromosome position: 38,601,145-38,621,572, hg19). These regions contain only non-coding transcripts (ENSG00000232790 on 7p21.1 and TCONS_00013886, TCONS_00013887, TCONS_00014353, TCONS_00013888 on 7q21) indicating that no coding sequences are directly disrupted. The breakpoint on 7q31 mapped 200 kb downstream of FOXP2, a well-known language gene. No splice site or non-synonymous coding variants were found in the FOXP2 coding sequence. We were unable to detect any changes in the expression level of FOXP2 in fibroblast cells derived from the proband, although this may be the result of the low expression level of FOXP2 in these cells. We conclude that the phenotype observed in this patient either arises from a subtle change in FOXP2 regulation due to the disruption of a downstream element controlling its expression, or from the direct disruption of non-coding RNAs.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 5%
Netherlands 1 5%
Unknown 17 89%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 21%
Student > Ph. D. Student 3 16%
Student > Master 2 11%
Student > Bachelor 2 11%
Professor 1 5%
Other 5 26%
Unknown 2 11%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 6 32%
Agricultural and Biological Sciences 4 21%
Psychology 2 11%
Arts and Humanities 1 5%
Medicine and Dentistry 1 5%
Other 1 5%
Unknown 4 21%

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 13 July 2015.
All research outputs
#2,218,537
of 5,347,877 outputs
Outputs from Molecular Cytogenetics
#37
of 198 outputs
Outputs of similar age
#74,809
of 186,440 outputs
Outputs of similar age from Molecular Cytogenetics
#2
of 6 outputs
Altmetric has tracked 5,347,877 research outputs across all sources so far. This one has received more attention than most of these and is in the 56th percentile.
So far Altmetric has tracked 198 research outputs from this source. They receive a mean Attention Score of 1.8. This one has done well, scoring higher than 76% 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 186,440 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 57% of its contemporaries.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one. This one has scored higher than 4 of them.