A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
Abstract
:1. Introduction
1.1. CMT Is a Heterogeneous Genetic Disease
1.2. Molecular Diagnosis Is Positive around 40% of Cases
1.3. Next Generation Sequencing Technologies Increase the Rate of Molecular Diagnosis
2. Materials and Methods
3. Results and Discussion
3.1. The FILNEMUS Consortium Implemented a Unique Gene Panel for NSIPN
3.2. Molecular Strategy Is Based on Four Steps
3.3. Genes Are Classified Depending on Literature Evidence Based on Strande Publication and ClinGen Evaluation
3.4. This Classification Allows Stratification of Variant Analysis
4. Conclusions
How Does This Consortium Helps Molecular Diagnosis in NSIPN?
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
NGS | Next Generation Sequencing |
CMT | Charcot–Marie–Tooth disease |
HMSN | Hereditary Motor and Sensory Neuropathies |
dHMN | Distal Hereditary Motor Neuropathies |
HSAN | Hereditary Motor Neuropathies |
DNA | Deoxyribonucleic Acid |
FILNEMUS | Filière Nationale des Maladies Rares Neuromusculaires |
PMP22 | peripheral myelin protein 22 |
MPZ | Myelin Protein Zero |
PNKP | Polynucleotide Kinase Phosphatase |
WES | Whole Exome Sequencing |
WGS | Whole Genome Sequencing |
MLPA | Multiplex-ligation-dependent-probe-amplification |
DYNC1H1 | Dynein Cytoplasmic 1 Heavy Chain 1 |
GARS | Glycyl-TRNA Synthetase 1 |
HSPB | Heat Shock Protein Family |
IGHMBP2 | Immunoglobulin Mu DNA Binding Protein |
MFN2 | Mitofusin 2 |
PLEKHG5 | Pleckstrin Homology And RhoGEF Domain Containing G5 |
SPG11 | Spastic Paraplegia 11 |
VUS | Variant of Uncertain Significance |
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Subgroup | Definitive Genes n (%) | Limited Genes n (%) | Total Genes n |
---|---|---|---|
CMT or HMSN | 55 (68%) | 26 (32%) | 81 |
dHMN | 21(81%) | 5(19%) | 26 |
HSAN | 17(85%) | 3(15%) | 20 |
NSIPN | 93 (73%) | 34 (27%) | 127 |
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Benquey, T.; Pion, E.; Cossée, M.; Krahn, M.; Stojkovic, T.; Perrin, A.; Cerino, M.; Molon, A.; Lia, A.-S.; Magdelaine, C.; et al. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing. Genes 2022, 13, 318. https://doi.org/10.3390/genes13020318
Benquey T, Pion E, Cossée M, Krahn M, Stojkovic T, Perrin A, Cerino M, Molon A, Lia A-S, Magdelaine C, et al. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing. Genes. 2022; 13(2):318. https://doi.org/10.3390/genes13020318
Chicago/Turabian StyleBenquey, Thibaut, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Aurélien Perrin, Mathieu Cerino, Annamaria Molon, Anne-Sophie Lia, Corinne Magdelaine, and et al. 2022. "A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing" Genes 13, no. 2: 318. https://doi.org/10.3390/genes13020318
APA StyleBenquey, T., Pion, E., Cossée, M., Krahn, M., Stojkovic, T., Perrin, A., Cerino, M., Molon, A., Lia, A.-S., Magdelaine, C., Francou, B., Guiochon-Mantel, A., Malinge, M.-C., Leguern, E., Lévy, N., Attarian, S., Latour, P., & Bonello-Palot, N. (2022). A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing. Genes, 13(2), 318. https://doi.org/10.3390/genes13020318