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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing

Overview of attention for article published in Orphanet Journal of Rare Diseases, January 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (82nd percentile)
  • High Attention Score compared to outputs of the same age and source (89th percentile)

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85 Mendeley
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Title
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Published in
Orphanet Journal of Rare Diseases, January 2016
DOI 10.1186/s13023-016-0390-6
Pubmed ID
Authors

Sébastien Lévesque, Christiane Auray-Blais, Elaine Gravel, Michel Boutin, Laura Dempsey-Nunez, Pierre-Etienne Jacques, Sébastien Chenier, Sandrine Larue, Marie-France Rioux, Walla Al-Hertani, Amelie Nadeau, Jean Mathieu, Bruno Maranda, Valérie Désilets, Paula J. Waters, Joan Keutzer, Stephanie Austin, Priya Kishnani

Abstract

Late-onset Pompe disease (LOPD) is a rare treatable lysosomal storage disorder characterized by progressive lysosomal glycogen accumulation and muscle weakness, with often a limb-girdle pattern. Despite published guidelines, testing for LOPD is often overlooked or delayed in adults, owing to its low frequency compared to other muscle disorders with similar muscle patterns. Next-generation sequencing has the capability to test concurrently for several muscle disorders. This could potentially lead to increased diagnosis of LOPD, disorders with non-specific muscle weakness or atypical patients. We developed a gene panel to further study its clinical utility in a cohort of patients with suspected muscle disorders. We designed a gene panel to analyze the coding sequences and splice site junctions of GAA causing LOPD, along with 77 other genes causing muscle disorders with overlapping phenotypes. At a median coverage of ~200X (sequences per base), all GAA exons were successfully covered with >20X and only 0.3 % of exons across all genes were <20X. The panel showed an excellent sensitivity (100 %) and specificity (98 %) across all selected genes, using known variations in Pompe patients and controls. We determined its clinical utility by analyzing 34 patients with suspected muscle disorders of undetermined etiology and various muscle patterns, who were referred or followed in neuromuscular and genetics clinics. A putative diagnosis was found in up to 32 % of patients. The gene panel was instrumental in reaching a diagnosis in atypical patients, including one LOPD case. Acid alpha-glucosidase activity was used to confirm the molecular results in all patients. This work highlights the high clinical utility of gene panels in patients with suspected muscle disorders and its potential to facilitate the diagnosis of patients showing non-specific muscle weakness or atypical phenotypes. We propose that gene panels should be used as a first-tier test in patients with suspected muscle disorders of undetermined etiology, which could further increase overall diagnosis of muscle conditions, and potentially reduce diagnostic delay. Further studies are necessary to determine the impact of first-tier gene panels on diagnostic delay and on treatment outcome for LOPD.

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X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 85 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 85 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 13%
Student > Ph. D. Student 10 12%
Student > Bachelor 9 11%
Other 8 9%
Professor > Associate Professor 7 8%
Other 19 22%
Unknown 21 25%
Readers by discipline Count As %
Medicine and Dentistry 21 25%
Biochemistry, Genetics and Molecular Biology 20 24%
Agricultural and Biological Sciences 6 7%
Neuroscience 5 6%
Engineering 2 2%
Other 10 12%
Unknown 21 25%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 8. 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 January 2016.
All research outputs
#4,485,001
of 24,878,531 outputs
Outputs from Orphanet Journal of Rare Diseases
#612
of 2,991 outputs
Outputs of similar age
#73,134
of 407,674 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#8
of 65 outputs
Altmetric has tracked 24,878,531 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,991 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.1. This one has done well, scoring higher than 79% 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 407,674 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 82% of its contemporaries.
We're also able to compare this research output to 65 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 89% of its contemporaries.