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Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

Overview of attention for article published in neurogenetics, November 2014
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2 tweeters

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8 Mendeley
Title
Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities
Published in
neurogenetics, November 2014
DOI 10.1007/s10048-014-0432-y
Pubmed ID
Authors

Ramona Salvarinova, Cynthia X. Ye, Andrea Rossi, Roberta Biancheri, Elke H. Roland, Paul Pavlidis, Colin J. Ross, Maja Tarailo-Graovac, Wyeth W. Wasserman, Clara D. M. van Karnebeek

Abstract

We describe a family with QARS deficiency due to compound heterozygous QARS mutations, including c.1387G > A (p.R463*) in the catalytic core domain and c.2226C > G (p.Q742H) in the anticodon domain, both previously unreported and predicted damaging. The phenotype of the male index further confirms this specific aminoacyl-transfer RNA (tRNA) synthetase disorder as a novel genetic cause of progressive microcephaly with diffuse cerebral atrophy, severely deficient myelination, intractable seizures, and developmental arrest. However, in contrast to the two hitherto published families, the cerebellum and its myelination are not affected. An awareness that QARS mutations may cause isolated supratentorial changes is crucial for properly directing genetic analysis.

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 8 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
France 1 13%
Unknown 7 88%

Demographic breakdown

Readers by professional status Count As %
Researcher 2 25%
Student > Ph. D. Student 2 25%
Other 1 13%
Student > Master 1 13%
Student > Bachelor 1 13%
Other 1 13%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 3 38%
Medicine and Dentistry 2 25%
Unspecified 1 13%
Agricultural and Biological Sciences 1 13%
Environmental Science 1 13%
Other 0 0%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 01 December 2014.
All research outputs
#7,641,337
of 12,228,633 outputs
Outputs from neurogenetics
#188
of 265 outputs
Outputs of similar age
#140,034
of 274,042 outputs
Outputs of similar age from neurogenetics
#6
of 7 outputs
Altmetric has tracked 12,228,633 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 265 research outputs from this source. They receive a mean Attention Score of 4.5. This one is in the 18th percentile – i.e., 18% of its peers scored the same or lower than it.
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We're also able to compare this research output to 7 others from the same source and published within six weeks on either side of this one.