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Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy

Overview of attention for article published in American Journal of Human Genetics, May 2014
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Title
Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy
Published in
American Journal of Human Genetics, May 2014
DOI 10.1016/j.ajhg.2014.04.003
Pubmed ID
Authors

Panagiotis I. Sergouniotis, Christina Chakarova, Cian Murphy, Mirjana Becker, Eva Lenassi, Gavin Arno, Monkol Lek, Daniel G. MacArthur, UCL-Exomes Consortium, Shomi S. Bhattacharya, Anthony T. Moore, Graham E. Holder, Anthony G. Robson, Uwe Wolfrum, Andrew R. Webster, Vincent Plagnol

Abstract

In a subset of inherited retinal degenerations (including cone, cone-rod, and macular dystrophies), cone photoreceptors are more severely affected than rods; ABCA4 mutations are the most common cause of this heterogeneous class of disorders. To identify retinal-disease-associated genes, we performed exome sequencing in 28 individuals with "cone-first" retinal disease and clinical features atypical for ABCA4 retinopathy. We then conducted a gene-based case-control association study with an internal exome data set as the control group. TTLL5, encoding a tubulin glutamylase, was highlighted as the most likely disease-associated gene; 2 of 28 affected subjects harbored presumed loss-of-function variants: c.[1586_1589delAGAG];[1586_1589delAGAG], p.[Glu529Valfs(∗)2];[Glu529Valfs(∗)2], and c.[401delT(;)3354G>A], p.[Leu134Argfs(∗)45(;)Trp1118(∗)]. We then inspected previously collected exome sequence data from individuals with related phenotypes and found two siblings with homozygous nonsense variant c.1627G>T (p.Glu543(∗)) in TTLL5. Subsequently, we tested a panel of 55 probands with retinal dystrophy for TTLL5 mutations; one proband had a homozygous missense change (c.1627G>A [p.Glu543Lys]). The retinal phenotype was highly similar in three of four families; the sibling pair had a more severe, early-onset disease. In human and murine retinae, TTLL5 localized to the centrioles at the base of the connecting cilium. TTLL5 has been previously reported to be essential for the correct function of sperm flagella in mice and play a role in polyglutamylation of primary cilia in vitro. Notably, genes involved in the polyglutamylation and deglutamylation of tubulin have been associated with photoreceptor degeneration in mice. The electrophysiological and fundus autofluorescence imaging presented here should facilitate the molecular diagnosis in further families.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 2%
France 1 2%
South Africa 1 2%
Unknown 62 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 17 26%
Student > Ph. D. Student 13 20%
Student > Master 6 9%
Student > Bachelor 6 9%
Student > Doctoral Student 4 6%
Other 12 18%
Unknown 7 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 23 35%
Biochemistry, Genetics and Molecular Biology 17 26%
Medicine and Dentistry 9 14%
Immunology and Microbiology 2 3%
Neuroscience 2 3%
Other 3 5%
Unknown 9 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 4. 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 May 2014.
All research outputs
#8,185,440
of 25,371,288 outputs
Outputs from American Journal of Human Genetics
#3,436
of 5,878 outputs
Outputs of similar age
#76,143
of 242,173 outputs
Outputs of similar age from American Journal of Human Genetics
#33
of 39 outputs
Altmetric has tracked 25,371,288 research outputs across all sources so far. This one has received more attention than most of these and is in the 67th percentile.
So far Altmetric has tracked 5,878 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 18.3. This one is in the 41st percentile – i.e., 41% 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 242,173 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 68% of its contemporaries.
We're also able to compare this research output to 39 others from the same source and published within six weeks on either side of this one. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.