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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Overview of attention for article published in PLoS Genetics, September 2014
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (98th percentile)
  • High Attention Score compared to outputs of the same age and source (98th percentile)

Mentioned by

news
11 news outlets
blogs
1 blog
twitter
13 tweeters
googleplus
1 Google+ user

Citations

dimensions_citation
226 Dimensions

Readers on

mendeley
331 Mendeley
citeulike
1 CiteULike
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Title
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Published in
PLoS Genetics, September 2014
DOI 10.1371/journal.pgen.1004580
Pubmed ID
Authors

Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I. Carina Gillberg, Gudrun A. Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeisser, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron

Abstract

SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.

Twitter Demographics

The data shown below were collected from the profiles of 13 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 331 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 <1%
Germany 2 <1%
Japan 1 <1%
France 1 <1%
Portugal 1 <1%
Korea, Republic of 1 <1%
Netherlands 1 <1%
Unknown 321 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 65 20%
Student > Bachelor 58 18%
Student > Master 53 16%
Researcher 52 16%
Student > Doctoral Student 33 10%
Other 70 21%
Readers by discipline Count As %
Agricultural and Biological Sciences 93 28%
Neuroscience 64 19%
Medicine and Dentistry 43 13%
Biochemistry, Genetics and Molecular Biology 40 12%
Unspecified 37 11%
Other 54 16%

Attention Score in Context

This research output has an Altmetric Attention Score of 101. 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 11 April 2018.
All research outputs
#143,206
of 12,793,889 outputs
Outputs from PLoS Genetics
#135
of 6,453 outputs
Outputs of similar age
#2,589
of 201,114 outputs
Outputs of similar age from PLoS Genetics
#2
of 188 outputs
Altmetric has tracked 12,793,889 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 6,453 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 14.1. This one has done particularly well, scoring higher than 97% 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 201,114 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 98% of its contemporaries.
We're also able to compare this research output to 188 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 98% of its contemporaries.