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Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Overview of attention for article published in BMC Medical Genetics, September 2015
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2 tweeters

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37 Dimensions

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52 Mendeley
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Title
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Published in
BMC Medical Genetics, September 2015
DOI 10.1186/s12881-015-0224-8
Pubmed ID
Authors

Thalia Antoniadi, Chris Buxton, Gemma Dennis, Natalie Forrester, Debbie Smith, Peter Lunt, Sarah Burton-Jones

Abstract

Inherited peripheral neuropathy (IPN) is a clinically and genetically heterogeneous group of disorders with more than 90 genes associated with the different subtypes. Sequential gene screening is gradually being replaced by next generation sequencing (NGS) applications. We designed and validated a targeted NGS panel assay including 56 genes associated with known causes of IPN. We report our findings following NGS panel testing of 448 patients with different types of clinically-suspected IPN. Genetic diagnosis was achieved in 137 patients (31 %) and involved 195 pathogenic variants in 31 genes. 93 patients had pathogenic variants in genes where a resulting phenotype follows dominant inheritance, 32 in genes where this would follow recessive inheritance, and 12 presented with X-linked disease. Almost half of the diagnosed patients (64) had a pathogenic variant either in genes not previously available for routine diagnostic testing in a UK laboratory (50 patients) or in genes whose primary clinical association was not IPN (14). Seven patients had a pathogenic variant in a gene not hitherto indicated from their phenotype and three patients had more than one pathogenic variant, explaining their complex phenotype and providing information essential for accurate prediction of recurrence risks. Our results demonstrate that targeted gene panel testing is an unbiased approach which overcomes the limitations imposed by limited existing knowledge for rare genes, reveals high heterogeneity, and provides high diagnostic yield. It is therefore a highly efficient and cost effective tool for achieving a genetic diagnosis for IPN.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 %
United Kingdom 1 2%
United States 1 2%
Unknown 50 96%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 15 29%
Researcher 10 19%
Student > Postgraduate 8 15%
Other 5 10%
Student > Master 4 8%
Other 6 12%
Unknown 4 8%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 16 31%
Medicine and Dentistry 12 23%
Agricultural and Biological Sciences 9 17%
Neuroscience 3 6%
Arts and Humanities 1 2%
Other 2 4%
Unknown 9 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 02 April 2016.
All research outputs
#3,635,268
of 7,476,637 outputs
Outputs from BMC Medical Genetics
#229
of 516 outputs
Outputs of similar age
#110,322
of 233,019 outputs
Outputs of similar age from BMC Medical Genetics
#12
of 32 outputs
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