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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Overview of attention for article published in Orphanet Journal of Rare Diseases, March 2016
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  • Above-average Attention Score compared to outputs of the same age (52nd percentile)

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Title
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
Published in
Orphanet Journal of Rare Diseases, March 2016
DOI 10.1186/s13023-016-0408-0
Pubmed ID
Authors

Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent Laugel

Abstract

Deficient nucleotide excision repair (NER) activity causes a variety of autosomal recessive diseases including xeroderma pigmentosum (XP) a disorder which pre-disposes to skin cancer, and the severe multisystem condition known as Cockayne syndrome (CS). In view of the clinical overlap between NER-related disorders, as well as the existence of multiple phenotypes and the numerous genes involved, we developed a new diagnostic approach based on the enrichment of 16 NER-related genes by multiplex amplification coupled with next-generation sequencing (NGS). Our test cohort consisted of 11 DNA samples, all with known mutations and/or non pathogenic SNPs in two of the tested genes. We then used the same technique to analyse samples from a prospective cohort of 40 patients. Multiplex amplification and sequencing were performed using AmpliSeq protocol on the Ion Torrent PGM (Life Technologies). We identified causative mutations in 17 out of the 40 patients (43 %). Four patients showed biallelic mutations in the ERCC6(CSB) gene, five in the ERCC8(CSA) gene: most of them had classical CS features but some had very mild and incomplete phenotypes. A small cohort of 4 unrelated classic XP patients from the Basque country (Northern Spain) revealed a common splicing mutation in POLH (XP-variant), demonstrating a new founder effect in this population. Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. Our study confirms that NGS is an efficient technique for the analysis of NER-related disorders on a molecular level. It is particularly useful for phenotypes with combined features or unusually mild symptoms. Targeted NGS used in conjunction with DNA repair functional tests and precise clinical evaluation permits rapid and cost-effective diagnosis in patients with NER-defects.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 39 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 21%
Researcher 5 13%
Student > Master 5 13%
Student > Bachelor 4 10%
Student > Doctoral Student 2 5%
Other 7 18%
Unknown 8 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 17 44%
Medicine and Dentistry 8 21%
Agricultural and Biological Sciences 4 10%
Computer Science 1 3%
Neuroscience 1 3%
Other 0 0%
Unknown 8 21%
Attention Score in Context

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 24 March 2016.
All research outputs
#13,924,539
of 24,286,850 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,367
of 2,865 outputs
Outputs of similar age
#142,756
of 304,686 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#25
of 31 outputs
Altmetric has tracked 24,286,850 research outputs across all sources so far. This one is in the 41st percentile – i.e., 41% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,865 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.0. This one has gotten more attention than average, scoring higher than 50% 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 304,686 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 31 others from the same source and published within six weeks on either side of this one. This one is in the 22nd percentile – i.e., 22% of its contemporaries scored the same or lower than it.