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Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Overview of attention for article published in Genome Biology (Online Edition), September 2015
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  • Above-average Attention Score compared to outputs of the same age (60th percentile)

Mentioned by

twitter
7 tweeters

Citations

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76 Dimensions

Readers on

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49 Mendeley
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Title
Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism
Published in
Genome Biology (Online Edition), September 2015
DOI 10.1186/s13059-015-0779-x
Pubmed ID
Authors

Ranad Shaheen, Ghada M H Abdel-Salam, Michael P. Guy, Rana Alomar, Mohamed S. Abdel-Hamid, Hanan H. Afifi, Samira I. Ismail, Bayoumi A. Emam, Eric M. Phizicky, Fowzan S. Alkuraya

Abstract

Primordial dwarfism is a state of extreme prenatal and postnatal growth deficiency, and is characterized by marked clinical and genetic heterogeneity. Two presumably unrelated consanguineous families presented with an apparently novel form of primordial dwarfism in which severe growth deficiency is accompanied by distinct facial dysmorphism, brain malformation (microcephaly, agenesis of corpus callosum, and simplified gyration), and severe encephalopathy with seizures. Combined autozygome/exome analysis revealed a novel missense mutation in WDR4 as the likely causal variant. WDR4 is the human ortholog of the yeast Trm82, an essential component of the Trm8/Trm82 holoenzyme that effects a highly conserved and specific (m(7)G46) methylation of tRNA. The human mutation and the corresponding yeast mutation result in a significant reduction of m(7)G46 methylation of specific tRNA species, which provides a potential mechanism for primordial dwarfism associated with this lesion, since reduced m(7)G46 modification causes a growth deficiency phenotype in yeast. Our study expands the number of biological pathways underlying primordial dwarfism and adds to a growing list of human diseases linked to abnormal tRNA modification.

Twitter Demographics

The data shown below were collected from the profiles of 7 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 49 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
China 1 2%
Brazil 1 2%
Unknown 47 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 13 27%
Student > Master 8 16%
Student > Ph. D. Student 5 10%
Professor 4 8%
Student > Bachelor 4 8%
Other 7 14%
Unknown 8 16%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 15 31%
Agricultural and Biological Sciences 15 31%
Medicine and Dentistry 7 14%
Neuroscience 1 2%
Unknown 11 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 30 September 2015.
All research outputs
#8,770,785
of 16,534,657 outputs
Outputs from Genome Biology (Online Edition)
#2,948
of 3,473 outputs
Outputs of similar age
#97,479
of 252,571 outputs
Outputs of similar age from Genome Biology (Online Edition)
#1
of 1 outputs
Altmetric has tracked 16,534,657 research outputs across all sources so far. This one is in the 46th percentile – i.e., 46% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,473 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 25.6. This one is in the 14th percentile – i.e., 14% 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 252,571 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 60% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them