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首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach
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Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach

机译：神经肌肉障碍中exome测序后的基因型引导诊断重新评估：两步方法的经验

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摘要

Background and purpose Next‐generation sequencing has greatly improved the diagnostic success rates for genetic neuromuscular disorders ( NMD s). Nevertheless, most patients still remain undiagnosed, and there is a need to maximize the diagnostic yield. Methods A retrospective study was conducted on 72 patients with NMD s who underwent exome sequencing ( ES ), partly followed by genotype‐guided diagnostic reassessment and secondary investigations. The diagnostic yields that would have been achieved by appropriately chosen narrow and comprehensive gene panels were also analysed. Results The initial diagnostic yield of ES was 30.6% ( n ?=?22/72 patients). In an additional 15.3% of patients ( n ?=?11/72) ES results were of unknown clinical significance. After genotype‐guided diagnostic reassessment and complementary investigations, the yield was increased to 37.5% ( n ?=?27/72). Compared to ES , targeted gene panels (25?kilobases) reached a diagnostic yield of 22.2% ( n ?=?16/72), whereas comprehensive gene panels achieved 34.7% ( n ?=?25/72). Conclusion Exome sequencing allows the detection of pathogenic variants missed by (narrowly) targeted gene panel approaches. Diagnostic reassessment after genetic testing further enhances the diagnostic outcomes for NMD s.
机译：背景和目的下一代测序极大地改善了遗传神经肌肉障碍（NMD S）的诊断成功率。尽管如此，大多数患者仍然仍未诊断，并且需要最大化诊断产量。方法对72名患有Exome测序的NMD S患者进行了回顾性研究，部分后跟基因型引导诊断重新评估和二次调查。 The diagnostic yields that would have been achieved by appropriately chosen narrow and comprehensive gene panels were also analysed.结果ES的初始诊断产量为30.6％（n？= 22/72患者）。额外15.3％的患者（n？= 11/72）ES结果是未知的临床意义。在基因型引导诊断重量和互补性研究后，产量增加到37.5％（n？= 27/72）。与ES相比，靶向基因面板（千碱基）达到22.2％的诊断产率（n？=α16/72），而综合基因面板达到34.7％（n？= 25/72）。结论外壳测序允许检测（狭窄）靶向基因面板方法错过的病原变体。遗传测试后的诊断重新评估进一步增强了NMD S的诊断结果。

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