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TRNT1 deficiency: clinical, biochemical and molecular genetic features

Overview of attention for article published in Orphanet Journal of Rare Diseases, July 2016
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About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (86th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Mentioned by

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16 tweeters

Citations

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35 Dimensions

Readers on

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52 Mendeley
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Title
TRNT1 deficiency: clinical, biochemical and molecular genetic features
Published in
Orphanet Journal of Rare Diseases, July 2016
DOI 10.1186/s13023-016-0477-0
Pubmed ID
Authors

Yehani Wedatilake, Rojeen Niazi, Elisa Fassone, Christopher A. Powell, Sarah Pearce, Vincent Plagnol, José W. Saldanha, Robert Kleta, W Kling Chong, Emma Footitt, Philippa B. Mills, Jan-Willem Taanman, Michal Minczuk, Peter T. Clayton, Shamima Rahman

Abstract

TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). We investigated four patients from two families with infantile-onset cyclical, aseptic febrile episodes with vomiting and diarrhoea, global electrolyte imbalance during these episodes, sideroblastic anaemia, B lymphocyte immunodeficiency, retinitis pigmentosa, hepatosplenomegaly, exocrine pancreatic insufficiency and renal tubulopathy. Other clinical features found in children include sensorineural deafness, cerebellar atrophy, brittle hair, partial villous atrophy and nephrocalcinosis. Whole exome sequencing and bioinformatic filtering were utilised to identify recessive compound heterozygous TRNT1 mutations (missense mutation c.668T>C, p.Ile223Thr and a novel splice mutation c.342+5G>T) segregating with disease in the first family. The second family was found to have a homozygous TRNT1 mutation (c.569G>T), p.Arg190Ile, (previously published). We found normal mitochondrial translation products using passage matched controls and functional perturbation of 3' CCA addition to mitochondrial tRNAs (tRNA(Cys), tRNA(LeuUUR) and tRNA(His)) in fibroblasts from two patients, demonstrating a pathomechanism affecting the CCA addition to mt-tRNAs. Acute management of these patients included transfusion for anaemia, fluid and electrolyte replacement and immunoglobulin therapy. We also describe three-year follow-up findings after treatment by bone marrow transplantation in one patient, with resolution of fever and reversal of the abnormal metabolic profile. Our report highlights that TRNT1 mutations cause a spectrum of disease ranging from a childhood-onset complex disease with manifestations in most organs to an adult-onset isolated retinitis pigmentosa presentation. Systematic review of all TRNT1 cases and mutations reported to date revealed a distinctive phenotypic spectrum and metabolic and other investigative findings, which will facilitate rapid clinical recognition of future cases.

Twitter Demographics

The data shown below were collected from the profiles of 16 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 52 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 52 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 10 19%
Student > Bachelor 9 17%
Researcher 8 15%
Student > Master 5 10%
Other 4 8%
Other 9 17%
Unknown 7 13%
Readers by discipline Count As %
Medicine and Dentistry 18 35%
Biochemistry, Genetics and Molecular Biology 12 23%
Neuroscience 4 8%
Agricultural and Biological Sciences 3 6%
Immunology and Microbiology 2 4%
Other 3 6%
Unknown 10 19%

Attention Score in Context

This research output has an Altmetric Attention Score of 11. 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 18 August 2016.
All research outputs
#776,307
of 8,243,836 outputs
Outputs from Orphanet Journal of Rare Diseases
#90
of 1,125 outputs
Outputs of similar age
#35,300
of 262,785 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#5
of 50 outputs
Altmetric has tracked 8,243,836 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 1,125 research outputs from this source. They receive a mean Attention Score of 4.9. This one has done particularly well, scoring higher than 92% 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 262,785 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 86% of its contemporaries.
We're also able to compare this research output to 50 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 90% of its contemporaries.