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

Journal of Molecular Diagnostics

Volumn 18, Issue 2, 2016, Pages 225-234

  Lupo, Vincenzo ^a,b,c   García García, Francisco ^b,c   Sancho, Paula ^a,b   Tello, Cristina ^a   García Romero, Mar ^d   Villarreal, Liliana ^e   Alberti, Antonia ^f   Sivera, Rafael ^g   Dopazo, Joaquín ^b,c,h   Pascual Pascual, Samuel I ^c   Márquez Infante, Celedonio ^d   Casasnovas, Carlos ^f   Sevilla, Teresa ^b,g,i   Espinós, Carmen ^a,b,c  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c CENTRO DE INVESTIGACIÓN PRÍNCIPE FELIPE   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^f HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^g INSTITUTO DE INVESTIGACIÓN SANITARIA DEL HOSPITAL CLÍNICO SAN CARLOS IDISSC   (Spain)

^h National Institute for Bioinformatics   (Spain)

ⁱ UNIVERSITY OF VALENCIA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONTROLLED STUDY; GENE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; CASE CONTROL STUDY; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; GENETICS; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HIGH THROUGHPUT SEQUENCING; MALE; MUTATION; PROCEDURES; REPRODUCIBILITY;

CHAPERONE; DNAJB2 PROTEIN, HUMAN; HEAT SHOCK PROTEIN 40;

CASE-CONTROL STUDIES; CHARCOT-MARIE-TOOTH DISEASE; FEMALE; HAPLOTYPES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HSP40 HEAT-SHOCK PROTEINS; HUMANS; MALE; MOLECULAR CHAPERONES; MUTATION; REPRODUCIBILITY OF RESULTS;

EID: 84960889810     PISSN: 15251578     EISSN: 19437811     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2015.10.005     Document Type: Article

References (32)

1. H. Skre Genetic and clinical aspects of Charcot-Marie-Tooth's disease Clinical Genetic 6 1974 98 118
2. P. Dyck, and E.H. Lambert Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies Arch Neurol 18 1968 603 618
3. D. Pareyson, and C. Marchesi Diagnosis, natural history, and management of Charcot-Marie-Tooth disease Lancet Neurol 8 2009 654 667
4. K. Szigeti, and J.R. Lupski Charcot-Marie-Tooth disease Eur J Hum Genet 17 2009 703 710
5. A.M. Rossor, B. Kalmar, L. Greensmith, and M.M. Reilly The distal hereditary motor neuropathies J Neurol Neurosurg Psychiatry 83 2012 6 14
6. A.S. Saporta, S.L. Sottile, L.J. Miller, S.M. Feely, C.E. Siskind, and M.E. Shy Charcot-Marie-Tooth disease subtypes and genetic testing strategies Ann Neurol 69 2011 22 33
7. S.M. Murphy, M. Laura, K. Fawcett, A. Pandraud, Y.T. Liu, G.L. Davidson, A.M. Rossor, J.M. Polke, V. Castleman, H. Manji, M.P. Lunn, K. Bull, G. Ramdharry, M. Davis, J.C. Blake, H. Houlden, and M.M. Reilly Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing J Neurol Neurosurg Psychiatry 83 2012 706 710
8. R. Sivera, T. Sevilla, J.J. Vílchez, D. Martínez-Rubio, M.J. Chumillas, J.F. Vázquez, N. Muelas, L. Bataller, J.M. Millán, F. Palau, and C. Espinós Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series Neurology 81 2013 1617 1625
9. V. Fridman, B. Bundy, M.M. Reilly, D. Pareyson, C. Bacon, J. Burns, J. Day, S. Feely, R.S. Finkel, T. Grider, C.A. Kirk, D.N. Herrmann, M. Laurá, J. Li, T. Lloyd, C.J. Sumner, F. Muntoni, G. Piscosquito, S. Ramchandren, R. Shy, C.E. Siskind, S.W. Yum, I. Moroni, E. Pagliano, S. Züchner, S.S. Scherer, M.E. Shy on behalf of the Inherited Neuropathies Consortium CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis J Neurol Neurosurg Psychiatry 86 2015 873 878
10. A.B. Genari, V.H. Borghetti, S.P. Gouvea, K.C. Bueno, P.L. dos Santos, A.C. dos Santos, A.A. Barreira, C.M. Lourenço, and W. Marques Jr. Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2 Neuromuscul Disord 21 2011 428 432
11. T. Sevilla, T. Jaijo, D. Nauffal, D. Collado, M.J. Chumillas, J.J. Vílchez, N. Muelas, L. Bataller, R. Domenech, C. Espinós, and F. Palau Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy Brain 131 2008 3051 3061
12. D. Kabzinska, A. Kochanski, H. Drac, B. Ryniewicz, K. Rowinska-Marcinska, and I. Hausmanowa-Petrusewicz Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene Neuropediatrics 36 2005 206 209
13. R. Claramunt, T. Sevilla, V. Lupo, A. Cuesta, J.M. Millán, J.J. Vílchez, F. Palau, and C. Espinós The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4 Clin Genet 71 2007 343 349
14. T. Sevilla, D. Martínez-Rubio, C. Márquez, C. Paradas, J. Colomer, T. Jaijo, J.M. Millán, F. Palau, and C. Espinós Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth Clin Genet 83 2013 565 570
15. H. Houlden, M. Laura, F. Wavrant-De Vrieze, J. Blake, N. Wood, and M.M. Reilly Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2 Neurology 71 2008 1660 1668
16. Lassuthová P, Safka Brozkova D, Krutova M, Zavad'akova P, Rivolta C, Ivanek R, Mazanec R, Haberlová J, Speziani F, González MA, Züchner S, Seemen P: Identifying a new gene for CMT2 in a Polish family using whole exome sequencing. Presented at the 5th European and North American Charcot-Marie-Toot Consortium Meeting, 2013 June 25-27, Antwerp, Belgium.
17. Kennerson ML, Pérez-Siles G, Kochanski A, Kidambi A, Drew AP, Kosinska J, Kabzinska D, Ploski R, Menezes M, Hausmanowa-Petrusewicz I, Züchner S, Nicholson GA: Stop-mutation in the MICAL1 gene identified by exome sequencing in combination with a useful previous linkage analysis in a Czech HMSN II family. Presented at the 5th European and North American Charcot-Marie-Toot Consortium Meeting, 2013 June 25-27, Antwerp, Belgium.
18. V.V. Ionasescu, C. Searby, R. Ionasescu, I.M. Neuhaus, and R. Werner Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy Neurology 47 1996 541 544
19. H. Houlden, M. Girard, C. Cockerell, D. Ingram, N.W. Wood, M. Goossens, R.W. Walker, and M.M. Reilly Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction Ann Neurol 56 2004 730 734
20. A. McKenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M.A. DePristo The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data Genome Res 20 2010 1297 1303
21. I. Medina, A. De Maria, M. Bleda, F. Salavert, R. Alonso, C.Y. Gonzalez, and J. Dopazo VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing Nucleic Acids Res 40 2012 W54 W58
22. S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E. Spector, K. Voelkerding, and H.L. Rehm Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 2015 405 424
23. E. Ruark, K. Snape, P. Humburg, C. Loveday, I. Bajrami, R. Brough, et al. Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium C. Turnbull, J.S. Reis-Filho, A. Ashworth, A.C. Antoniou, C.J. Lord, P. Donnelly, and N. Rahman Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer Nature 493 2013 406 410
24. E.C. Berglund, C.M. Lindqvist, S. Hayat, E. Overnas, N. Henriksson, J. Nordlund, P. Wahlberg, E. Forestier, G. Lönnerholm, and A.C. Syvänen Accurate detection of subclonal single nucleotide variants in whole genome amplified and pooled cancer samples using HaloPlex target enrichment BMC Genomics 14 2013 856
25. L. Pihlstrom, A. Rengmark, K.A. Bjornara, and M. Toft Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease Ann Hum Genet 78 2014 243 252
26. A. Green, H. Green, M. Rehnberg, A. Svensson, C. Gunnarsson, and J. Jonasson Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes J Mol Diagn 17 2015 31 42
27. S.C. Blumen, S. Astord, V. Robin, L. Vignaud, N. Toumi, A. Cieslik, A. Achiron, R.L. Carasso, M. Gurevich, I. Braverman, N. Blumen, A. Munich, M. Barkats, and L. Viollet A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation Ann Neurol 71 2012 509 519
28. H. Hoyer, G.J. Braathen, O.L. Busk, O.L. Holla, M. Svendsen, H.T. Hilmarsen, L. Stand, C.F. Skjelbred, and M.B. Russell Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing Biomed Res Int 2014 2014 210401
29. G.M. Cooper, and J. Shendure Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data Nat Rev Genet 12 2011 628 640
30. S. Schlisio, R.S. Kenchappa, L.C. Vredeveld, R.E. George, R. Stewart, H. Greulich, K. Shahriari, N.V. Nguyen, P. Pigny, P.L. Dahia, S.L. Pomeroy, J.M. Maris, A.T. Look, M. Meyerson, D.S. Peeper, B.D. Carter, and W.G. Kaelin Jr. The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor Genes Dev 22 2008 884 893
31. K. Verhoeven, K.G. Claeys, S. Zuchner, J.M. Schroder, J. Weis, C. Ceuterick, and et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2 Brain 129 2006 2093 2102
32. A.M. Rossor, J.M. Polke, H. Houlden, and M.M. Reilly Clinical implications of genetic advances in Charcot-Marie-Tooth disease Nat Rev Neurol 9 2013 562 571