↓ Skip to main content

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities

Overview of attention for article published in American Journal of Human Genetics, December 2017
Altmetric Badge

About this Attention Score

  • Above-average Attention Score compared to outputs of the same age (52nd percentile)

Mentioned by

twitter
4 tweeters

Citations

dimensions_citation
21 Dimensions

Readers on

mendeley
35 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
Published in
American Journal of Human Genetics, December 2017
DOI 10.1016/j.ajhg.2017.11.004
Pubmed ID
Authors

Sonja Martin, Adam Chamberlin, Deepali N. Shinde, Maja Hempel, Tim M. Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J. Larsen, Lars Kjaersgaard Hansen, Ali Fatemi, Julie S. Cohen, Johannes Lemke, Kristina P. Sørensen, Katherine L. Helbig, Davor Lessel, Rami Abou Jamra

Abstract

Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeling of the altered protein showed that three of the variants in the SYTANLAAF motif orient toward the center of the pore region and most likely lead to disturbance of the gating mechanism. The fourth variant in the SYTANLAAF motif most likely results in reduced permeability. The variant in the extracellular domain potentially interferes with the binding between the monomers. On the basis of clinical information and genetic results, and the fact that other subunits of the AMPA receptor have already been associated with neurodevelopmental disorders, we suggest that pathogenic de novo variants in GRIA4 lead to intellectual disability with or without seizures, gait abnormalities, problems of social behavior, and other variable features.

Twitter Demographics

The data shown below were collected from the profiles of 4 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 35 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 35 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 7 20%
Student > Doctoral Student 5 14%
Student > Bachelor 4 11%
Student > Master 4 11%
Student > Ph. D. Student 3 9%
Other 8 23%
Unknown 4 11%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 20%
Neuroscience 6 17%
Medicine and Dentistry 6 17%
Agricultural and Biological Sciences 3 9%
Nursing and Health Professions 2 6%
Other 3 9%
Unknown 8 23%

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 03 April 2018.
All research outputs
#7,190,603
of 12,749,777 outputs
Outputs from American Journal of Human Genetics
#3,888
of 4,468 outputs
Outputs of similar age
#175,651
of 386,179 outputs
Outputs of similar age from American Journal of Human Genetics
#45
of 47 outputs
Altmetric has tracked 12,749,777 research outputs across all sources so far. This one is in the 42nd percentile – i.e., 42% of other outputs scored the same or lower than it.
So far Altmetric has tracked 4,468 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 13.7. This one is in the 12th percentile – i.e., 12% of its peers scored the same or lower than it.
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 386,179 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 52% of its contemporaries.
We're also able to compare this research output to 47 others from the same source and published within six weeks on either side of this one. This one is in the 4th percentile – i.e., 4% of its contemporaries scored the same or lower than it.