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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

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Vaeth, Signe ; Christensen, Rikke ; Dunø, Morten ; Lildballe, Dorte Launholt ; Thorsen, Kasper ; Vissing, John ; Svenstrup, Kirsten ; Hertz, Jens Michael ; Andersen, Henning ; Jensen, Uffe Birk. / Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform. In: European Journal of Medical Genetics. 2019 ; Vol. 62. pp. 1-8.

Bibtex

@article{2b764a4376a0423e84ed15a3c054e94f,
title = "Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform",
abstract = "Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the analysis of a handful of genes to the analysis of all genes associated with CMT in a single run. In this study we describe the CMT diagnostics in Denmark in 1992-2012, prior to the implementation of NGS, by combining laboratory- and national registry data. We investigate the effect of implementing a targeted NGS approach of 63 genes associated with CMT in the diagnostic laboratory setting. This was performed by analyzing a cohort of 195 samples from patients previously analyzed by Sanger sequencing and quantitative analysis for the common causes of CMT without reaching a molecular diagnosis. A total of 1442 CMT analyses were performed in Denmark in the period 1992-2012; a disease-causing variant was detected in 21.6{\%} of the cases. Interestingly, the diagnosis was genetically confirmed in significantly more women than men; 25.9{\%} compared to18.5{\%}. In our study cohort, we found a 5.6{\%} increase in the diagnostic yield with the introduction of a targeted NGS approach.",
author = "Signe Vaeth and Rikke Christensen and Morten Dun{\o} and Lildballe, {Dorte Launholt} and Kasper Thorsen and John Vissing and Kirsten Svenstrup and Hertz, {Jens Michael} and Henning Andersen and Jensen, {Uffe Birk}",
note = "Copyright {\circledC} 2018 Elsevier Masson SAS. All rights reserved.",
year = "2019",
doi = "10.1016/j.ejmg.2018.04.003",
language = "English",
volume = "62",
pages = "1--8",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier France Editions Scientifiques et Medicales",

}

RIS

TY - JOUR

T1 - Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform

AU - Vaeth, Signe

AU - Christensen, Rikke

AU - Dunø, Morten

AU - Lildballe, Dorte Launholt

AU - Thorsen, Kasper

AU - Vissing, John

AU - Svenstrup, Kirsten

AU - Hertz, Jens Michael

AU - Andersen, Henning

AU - Jensen, Uffe Birk

N1 - Copyright © 2018 Elsevier Masson SAS. All rights reserved.

PY - 2019

Y1 - 2019

N2 - Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the analysis of a handful of genes to the analysis of all genes associated with CMT in a single run. In this study we describe the CMT diagnostics in Denmark in 1992-2012, prior to the implementation of NGS, by combining laboratory- and national registry data. We investigate the effect of implementing a targeted NGS approach of 63 genes associated with CMT in the diagnostic laboratory setting. This was performed by analyzing a cohort of 195 samples from patients previously analyzed by Sanger sequencing and quantitative analysis for the common causes of CMT without reaching a molecular diagnosis. A total of 1442 CMT analyses were performed in Denmark in the period 1992-2012; a disease-causing variant was detected in 21.6% of the cases. Interestingly, the diagnosis was genetically confirmed in significantly more women than men; 25.9% compared to18.5%. In our study cohort, we found a 5.6% increase in the diagnostic yield with the introduction of a targeted NGS approach.

AB - Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the analysis of a handful of genes to the analysis of all genes associated with CMT in a single run. In this study we describe the CMT diagnostics in Denmark in 1992-2012, prior to the implementation of NGS, by combining laboratory- and national registry data. We investigate the effect of implementing a targeted NGS approach of 63 genes associated with CMT in the diagnostic laboratory setting. This was performed by analyzing a cohort of 195 samples from patients previously analyzed by Sanger sequencing and quantitative analysis for the common causes of CMT without reaching a molecular diagnosis. A total of 1442 CMT analyses were performed in Denmark in the period 1992-2012; a disease-causing variant was detected in 21.6% of the cases. Interestingly, the diagnosis was genetically confirmed in significantly more women than men; 25.9% compared to18.5%. In our study cohort, we found a 5.6% increase in the diagnostic yield with the introduction of a targeted NGS approach.

U2 - 10.1016/j.ejmg.2018.04.003

DO - 10.1016/j.ejmg.2018.04.003

M3 - Journal article

VL - 62

SP - 1

EP - 8

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

ER -

ID: 55680487