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The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients

(2016) NEUROLOGY. 87(1). p.71-76
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Organization
Abstract
Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients. Methods: We applied an NGS-based platform named MotorPlex to our diagnostic workflow to test muscle disease genes with a high sensitivity and specificity for small DNA variants. We analyzed 504 undiagnosed patients mostly referred as being affected by limb-girdle muscular dystrophy or congenital myopathy. Results: MotorPlex provided a complete molecular diagnosis in 218 cases (43.3%). A further 160 patients (31.7%) showed as yet unproven candidate variants. Pathogenic variants were found in 47 of 93 genes, and in more than 30% of cases, the phenotype was nonconventional, broadening the spectrum of disease presentation in at least 10 genes. Conclusions: Our large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.
Keywords
NEUROMUSCULAR DISORDERS, MENDELIAN DISEASE, DIAGNOSIS, PHENOTYPES, DUCHENNE

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MLA
Savarese, Marco et al. “The Genetic Basis of Undiagnosed Muscular Dystrophies and Myopathies: Results from 504 Patients.” NEUROLOGY 87.1 (2016): 71–76. Print.
APA
Savarese, M., Di Fruscio, G., Torella, A., Fiorillo, C., Magri, F., Fanin, M., Ruggiero, L., et al. (2016). The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. NEUROLOGY, 87(1), 71–76.
Chicago author-date
Savarese, Marco, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Marina Fanin, Lucia Ruggiero, et al. 2016. “The Genetic Basis of Undiagnosed Muscular Dystrophies and Myopathies: Results from 504 Patients.” Neurology 87 (1): 71–76.
Chicago author-date (all authors)
Savarese, Marco, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Marina Fanin, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, Alessandra Ruggieri, Dario Ronchi, Giorgio Tasca, Adele D’Amico, Sandra Janssens, Olimpia Farina, Margherita Mutarelli, Veer Singh Marwah, Arcomaria Garofalo, Teresa Giugliano, Simone Sanpaolo, Francesca Del Vecchio Blanco, Gaia Esposito, Giulio Piluso, Paola D’Ambrosio, Roberta Petillo, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Anni Evilä, Peter Hackman, Massimiliano Filosto, Giuseppe Di Iorio, Gabriele Siciliano, Marina Mora, Lorenzo Maggi, Carlo Minetti, Sabrina Sacconi, Lucio Santoro, Kathleen Claes, Liliana Vercelli, Tiziana Mongini, Enzo Ricci, Francesca Gualandi, Rossella Tupler, Jan De Bleecker, Bjarne Udd, Antonio Toscano, Maurizio Moggio, Elena Pegoraro, Enrico Bertini, Eugenio Mercuri, Corrado Angelini, Filippo Maria Santorelli, Luisa Politano, Claudio Bruno, Giacomo Pietro Comi, and Vincenzo Nigro. 2016. “The Genetic Basis of Undiagnosed Muscular Dystrophies and Myopathies: Results from 504 Patients.” Neurology 87 (1): 71–76.
Vancouver
1.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, et al. The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients. NEUROLOGY. 2016;87(1):71–6.
IEEE
[1]
M. Savarese et al., “The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients,” NEUROLOGY, vol. 87, no. 1, pp. 71–76, 2016.
@article{8051092,
  abstract     = {Objective: To apply next-generation sequencing (NGS) for the investigation of the genetic basis of undiagnosed muscular dystrophies and myopathies in a very large cohort of patients.
Methods: We applied an NGS-based platform named MotorPlex to our diagnostic workflow to test muscle disease genes with a high sensitivity and specificity for small DNA variants. We analyzed 504 undiagnosed patients mostly referred as being affected by limb-girdle muscular dystrophy or congenital myopathy.
Results: MotorPlex provided a complete molecular diagnosis in 218 cases (43.3%). A further 160 patients (31.7%) showed as yet unproven candidate variants. Pathogenic variants were found in 47 of 93 genes, and in more than 30% of cases, the phenotype was nonconventional, broadening the spectrum of disease presentation in at least 10 genes.
Conclusions: Our large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.},
  author       = {Savarese, Marco and Di Fruscio, Giuseppina and Torella, Annalaura and Fiorillo, Chiara and Magri, Francesca and Fanin, Marina and Ruggiero, Lucia and Ricci, Giulia and Astrea, Guja and Passamano, Luigia and Ruggieri, Alessandra and Ronchi, Dario and Tasca, Giorgio and D'Amico, Adele and Janssens, Sandra and Farina, Olimpia and Mutarelli, Margherita and Marwah, Veer Singh and Garofalo, Arcomaria and Giugliano, Teresa and Sanpaolo, Simone and Del Vecchio Blanco, Francesca and Esposito, Gaia and Piluso, Giulio and D'Ambrosio, Paola and Petillo, Roberta and Musumeci, Olimpia and Rodolico, Carmelo and Messina, Sonia and Evilä, Anni and Hackman, Peter and Filosto, Massimiliano and Di Iorio, Giuseppe and Siciliano, Gabriele and Mora, Marina and Maggi, Lorenzo and Minetti, Carlo and Sacconi, Sabrina and Santoro, Lucio and Claes, Kathleen and Vercelli, Liliana and Mongini, Tiziana and Ricci, Enzo and Gualandi, Francesca and Tupler, Rossella and De Bleecker, Jan and Udd, Bjarne and Toscano, Antonio and Moggio, Maurizio and Pegoraro, Elena and Bertini, Enrico and Mercuri, Eugenio and Angelini, Corrado and Santorelli, Filippo Maria and Politano, Luisa and Bruno, Claudio and Comi, Giacomo Pietro and Nigro, Vincenzo},
  issn         = {0028-3878},
  journal      = {NEUROLOGY},
  keywords     = {NEUROMUSCULAR DISORDERS,MENDELIAN DISEASE,DIAGNOSIS,PHENOTYPES,DUCHENNE},
  language     = {eng},
  number       = {1},
  pages        = {71--76},
  title        = {The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients},
  url          = {http://dx.doi.org/10.1212/WNL.0000000000002800},
  volume       = {87},
  year         = {2016},
}

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