دورية أكاديمية
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
| العنوان: | Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain |
|---|---|
| المؤلفون: | González Quereda, Lidia, Rodríguez, Maria Jose, Diaz Manera, Jordi, Alonso Pérez, Jorge, Gallardo, Eduard, Nascimento, Andrés, Ortez, Carlos Ignacio, Natera de Benito, Daniel, Olivé i Plana, Montserrat, González Mera, Laura, López de Munain, Adolfo, Zulaica, Miren, Poza, Juan Jose, Jerico, Ivonne, Tome, Laura, Riera, Pau, Milisenda, José, Sánchez, Aurora, Garrabou Tornos, Glòria, Llano, Isabel, Madruga Garrido, Marcos, Gallano, Pia |
| المصدر: | Articles publicats en revistes (Medicina) |
| بيانات النشر: | MDPI |
| سنة النشر: | 2020 |
| المجموعة: | Dipòsit Digital de la Universitat de Barcelona |
| مصطلحات موضوعية: | Malalties neuromusculars, Malalties musculars, Neuromuscular diseases, Muscular Diseases |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 13 p.; application/pdf |
| اللغة: | English |
| العلاقة: | Reproducció del document publicat a: https://doi.org/10.3390/genes11050539Test; Genes, 2020, vol. 11, num. 5; https://doi.org/10.3390/genes11050539Test; http://hdl.handle.net/2445/171875Test |
| الإتاحة: | https://doi.org/10.3390/genes11050539Test http://hdl.handle.net/2445/171875Test |
| حقوق: | cc by (c) González Quereda et al., 2020 ; http://creativecommons.org/licenses/by/3.0/esTest/ ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.C5F75C42 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |