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首页> 美国卫生研究院文献>Genes >Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain
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Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain

机译：在西班牙大量未经遗传诊断的神经肌肉疾病患者中的靶向下一代测序

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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 as , and 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, , 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.
机译：术语神经肌肉疾病（NMD）包括许多遗传性和后天性疾病，鉴别诊断可能具有挑战性。鉴于可能的候选基因数量众多，临床，病理和遗传异质性，缺乏已建立的基因型-表型相关性以及某些致病基因的大小过大，下一代测序（NGS）在这种情况下尤其有用我们评估了定制的靶向下一代测序基因组的诊断价值，以研究西班牙NMD患者子集的突变谱。在NMD队列中的207例先天性肌病，远端肌病，先天性和成年性肌营养不良以及先天性肌无力综合症患者中，我们检测到102例患者（49.3％）的病因突变，涉及42个NMD相关基因。最常见的致病基因占病例的近30％。 207例患者中有32例（15.4％）携带了意义不确定的变体或具有无法识别的第二种突变，以解释该疾病的遗传原因。在其余的73名患者中（35.3％），未发现任何候选变异。结合患者的临床和肌病理学数据，在我们的实验室中设计的定制基因组被证明是诊断患有肌病，肌肉营养不良和先天性肌无力综合症的患者的强大工具。有针对性的NGS方法可以对NMD相关基因进行快速且经济高效的分析，在短时间内提供可靠的结果，并将侵入性技术归于第二层。

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