Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/171875
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | González Quereda, Lidia | - |
dc.contributor.author | Rodríguez, Maria Jose | - |
dc.contributor.author | Diaz Manera, Jordi | - |
dc.contributor.author | Alonso Pérez, Jorge | - |
dc.contributor.author | Gallardo, Eduard | - |
dc.contributor.author | Nascimento, Andrés | - |
dc.contributor.author | Ortez, Carlos Ignacio | - |
dc.contributor.author | Natera de Benito, Daniel | - |
dc.contributor.author | Olivé i Plana, Montserrat | - |
dc.contributor.author | González Mera, Laura | - |
dc.contributor.author | López de Munain, Adolfo | - |
dc.contributor.author | Zulaica, Miren | - |
dc.contributor.author | Poza, Juan Jose | - |
dc.contributor.author | Jerico, Ivonne | - |
dc.contributor.author | Tome, Laura | - |
dc.contributor.author | Riera, Pau | - |
dc.contributor.author | Milisenda, José | - |
dc.contributor.author | Sánchez, Aurora | - |
dc.contributor.author | Garrabou Tornos, Glòria | - |
dc.contributor.author | Llano, Isabel | - |
dc.contributor.author | Madruga Garrido, Marcos | - |
dc.contributor.author | Gallano, Pia | - |
dc.date.accessioned | 2020-11-09T10:20:38Z | - |
dc.date.available | 2020-11-09T10:20:38Z | - |
dc.date.issued | 2020-05-01 | - |
dc.identifier.uri | http://hdl.handle.net/2445/171875 | - |
dc.description.abstract | The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some causative genes such asTTN,NEBandRYR1.We evaluated the diagnostic value of a custom targeted next-generation sequencing gene panel to study the mutational spectrum of a subset of NMD patients in Spain. In an NMD cohort of 207 patients with congenital myopathies, distal myopathies, congenital and adult-onset muscular dystrophies, and congenital myasthenic syndromes, we detected causative mutations in 102 patients (49.3%), involving 42 NMD-related genes. The most common causative genes,TTN and RYR1, accounted for almost 30% of cases. Thirty-two of the 207 patients (15.4%) carried variants of uncertain significance or had an unidentified second mutation to explain the genetic cause of the disease. In the remaining 73 patients (35.3%), no candidate variant was identified. In combination with patients' clinical and myopathological data, the custom gene panel designed in our lab proved to be a powerful tool to diagnose patients with myopathies, muscular dystrophies and congenital myasthenic syndromes. Targeted NGS approaches enable a rapid and cost-effective analysis of NMD- related genes, offering reliable results in a short time and relegating invasive techniques to a second tier. | - |
dc.format.extent | 13 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | MDPI | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.3390/genes11050539 | - |
dc.relation.ispartof | Genes, 2020, vol. 11, num. 5 | - |
dc.relation.uri | https://doi.org/10.3390/genes11050539 | - |
dc.rights | cc by (c) González Quereda et al., 2020 | - |
dc.rights | http://creativecommons.org/licenses/by/3.0/es/ | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Malalties neuromusculars | - |
dc.subject.classification | Malalties musculars | - |
dc.subject.other | Neuromuscular diseases | - |
dc.subject.other | Muscular Diseases | - |
dc.title | Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.date.updated | 2020-11-03T17:12:12Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 32403337 | - |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Gonzalez-QueredaL.pdf | 749.52 kB | Adobe PDF | View/Open |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.