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OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes

Overview of attention for article published in Neurology, January 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (92nd percentile)
  • Good Attention Score compared to outputs of the same age and source (73rd percentile)

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1 news outlet
blogs
1 blog
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4 X users

Citations

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32 Dimensions

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41 Mendeley
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Title
OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes
Published in
Neurology, January 2016
DOI 10.1212/wnl.0000000000002334
Pubmed ID
Authors

Orly Goldstein, Omri Nayshool, Beatrice Nefussy, Bryan J Traynor, Alan E Renton, Mali Gana-Weisz, Vivian E Drory, Avi Orr-Urtreger

Abstract

To detect genetic variants underlying familial and sporadic amyotrophic lateral sclerosis (ALS). We analyzed 2 founder Jewish populations of Moroccan and Ashkenazi origins and ethnic matched controls. Exome sequencing of 2 sisters with ALS from Morocco was followed by genotyping the identified causative null mutation in 379 unrelated patients with ALS and 1,000 controls. The shared risk haplotype was characterized using whole-genome single nucleotide polymorphism array. We identified 5 unrelated patients with ALS homozygous for the null 691_692insAG mutation in the optineurin gene (OPTN), accounting for 5.8% of ALS of Moroccan origin and 0.3% of Ashkenazi. We also identified a high frequency of heterozygous carriers among patients with ALS, 8.7% and 2.9%, respectively, compared to 0.75% and 1.0% in controls. The risk of carriers for ALS was significantly increased, with odds ratio of 13.46 and 2.97 in Moroccan and Ashkenazi Jews, respectively. We determined that 691_692insAG is a founder mutation in the tested populations with a minimal risk haplotype of 58.5 Kb, encompassing the entire OPTN gene. Our data show that OPTN 691_692insAG mutation is a founder mutation in Moroccan and Ashkenazi Jews. This mutation causes autosomal recessive ALS and significantly increases the risk to develop the disease in heterozygous carriers, suggesting both a recessive mode of inheritance and a dominant with incomplete penetrance. These data emphasize the important role of OPTN in ALS pathogenesis, and demonstrate the complex genetics of ALS, as the same mutation leads to different phenotypes and appears in 2 patterns of inheritance.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 41 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 2%
France 1 2%
Unknown 39 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 22%
Student > Master 6 15%
Student > Ph. D. Student 5 12%
Student > Bachelor 4 10%
Student > Doctoral Student 2 5%
Other 5 12%
Unknown 10 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 8 20%
Agricultural and Biological Sciences 8 20%
Neuroscience 7 17%
Medicine and Dentistry 6 15%
Nursing and Health Professions 1 2%
Other 1 2%
Unknown 10 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 21. 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 02 July 2016.
All research outputs
#1,735,832
of 25,377,790 outputs
Outputs from Neurology
#3,238
of 21,010 outputs
Outputs of similar age
#29,272
of 400,132 outputs
Outputs of similar age from Neurology
#64
of 240 outputs
Altmetric has tracked 25,377,790 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 21,010 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 23.7. This one has done well, scoring higher than 84% 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 400,132 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 92% of its contemporaries.
We're also able to compare this research output to 240 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 73% of its contemporaries.