Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy Vincenzo.

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Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy Vincenzo Lupo, Francisco García-García, Paula Sancho, Cristina Tello, Mar García-Romero, Liliana Villarreal, Antonia Alberti, Rafael Sivera, Joaquín Dopazo, Samuel I. Pascual-Pascual, Celedonio Márquez-Infante, Carlos Casasnovas, Teresa Sevilla, Carmen Espinós The Journal of Molecular Diagnostics Volume 18, Issue 2, Pages 225-234 (March 2016) DOI: 10.1016/j.jmoldx.2015.10.005 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Depth of coverage by gene (A) and regions (B). A: The horizontal blue line is fixed at 250×. B: The green bars delimitate regions of the genes, and the blue bars represent the regions. The Journal of Molecular Diagnostics 2016 18, 225-234DOI: (10.1016/j.jmoldx.2015.10.005) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 Hereditary motor neuropathy families carrying the DNAJB2 c.352+1G>A mutation. The causative mutation was identified by the presented gene panel in fCMT-391 and fCMT-416; by a mutational screening using Sanger sequencing in fCMT-245 and fCMT-331; and by exome sequencing in fCMT-83. Arrows indicate the probands that were investigated by the HaloPlex gene panel (protocol version D.5; Agilent Technologies Inc, Santa Clara, CA). The remaining DNAs indicated with the code SGT or DNA were studied for segregation analysis. The Journal of Molecular Diagnostics 2016 18, 225-234DOI: (10.1016/j.jmoldx.2015.10.005) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Supplemental Figure S1 Families with novel changes and/or variants with a frequency of <1% that cosegregate with disease. Candidate variants to be the causative mutations are indicated for each family. Arrows indicate the probands that were investigated by the HaloPlex gene panel (protocol version D.5; Agilent Technologies Inc, Santa Clara, CA). The remaining DNAs indicated with the code SGT or DNA were studied for segregation analysis. The Journal of Molecular Diagnostics 2016 18, 225-234DOI: (10.1016/j.jmoldx.2015.10.005) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions