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Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

Overview of attention for article published in PLOS ONE, August 2009
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  • Good Attention Score compared to outputs of the same age (68th percentile)
  • Above-average Attention Score compared to outputs of the same age and source (54th percentile)

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Title
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome
Published in
PLOS ONE, August 2009
DOI 10.1371/journal.pone.0006568
Pubmed ID
Authors

Jill A. Rosenfeld, Blake C. Ballif, Ann Lucas, Edward J. Spence, Cynthia Powell, Arthur S. Aylsworth, Beth A. Torchia, Lisa G. Shaffer

Abstract

Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 72 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 1%
Italy 1 1%
Unknown 70 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 15%
Researcher 10 14%
Student > Bachelor 10 14%
Student > Master 6 8%
Professor 5 7%
Other 18 25%
Unknown 12 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 26 36%
Medicine and Dentistry 15 21%
Biochemistry, Genetics and Molecular Biology 12 17%
Psychology 4 6%
Neuroscience 3 4%
Other 2 3%
Unknown 10 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 14 May 2022.
All research outputs
#6,382,382
of 22,681,577 outputs
Outputs from PLOS ONE
#76,387
of 193,576 outputs
Outputs of similar age
#32,930
of 111,374 outputs
Outputs of similar age from PLOS ONE
#214
of 500 outputs
Altmetric has tracked 22,681,577 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 193,576 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 15.0. This one has gotten more attention than average, scoring higher than 59% 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 111,374 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 68% of its contemporaries.
We're also able to compare this research output to 500 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 54% of its contemporaries.