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通过基因panel分析改善遗传性周围神经病的诊断

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

作者信息

Laššuthová Petra, Šafka Brožková Dana, Krůtová Marcela, Neupauerová Jana, Haberlová Jana, Mazanec Radim, Dřímal Pavel, Seeman Pavel

机构信息

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

出版信息

Orphanet J Rare Dis. 2016 Aug 22;11(1):118. doi: 10.1186/s13023-016-0500-5.

Abstract

BACKGROUND

Inherited peripheral neuropathies (IPN) are the most common inherited neurological condition. It represents a highly heterogeneous group, both clinically and genetically. Targeted disease specific gene panel massively parallel sequencing (MPS) seems to be a useful tool in diagnosis of disorders with high genetic heterogeneity.

METHODS

In our study, we have designed, validated and updated our own custom gene panel of all known genes associated with IPN. One hundred and ninety-eight patients have been tested so far. Only patients in whom mutations in more common causes or relevant genes have already been excluded were enrolled. Five consecutive panel designs were prepared according to recent literature search, the last one covering ninety-three genes. Each patient was tested only once. All data were evaluated with at least two different pipelines.

RESULTS

In summary, causative mutation has been found in fifty-one patients (26 %). The results were inconclusive in thirty-one (16 %) patients. No variants of likely significance to IPN were found in one hundred and sixteen (58 %) patients.

CONCLUSION

MPS gene panel enables testing of all known IPN causes at once with high coverage and at an affordable cost making it truly a method of choice also in IPN. Gene panel testing results in several interesting results and findings.

摘要

背景

遗传性周围神经病(IPN)是最常见的遗传性神经系统疾病。它在临床和基因方面均代表一个高度异质性的群体。针对特定疾病的基因组合大规模平行测序(MPS)似乎是诊断具有高遗传异质性疾病的一种有用工具。

方法

在我们的研究中,我们设计、验证并更新了我们自己的与IPN相关的所有已知基因的定制基因组合。到目前为止,已对198名患者进行了检测。仅纳入那些已排除更常见病因或相关基因中存在突变的患者。根据最近的文献检索准备了五个连续的基因组合设计,最后一个涵盖93个基因。每位患者仅检测一次。所有数据均使用至少两种不同的流程进行评估。

结果

总体而言,在51名患者(26%)中发现了致病突变。31名(16%)患者的结果不明确。在116名(58%)患者中未发现对IPN可能具有重要意义的变异。

结论

MPS基因组合能够一次性检测所有已知的IPN病因,覆盖率高且成本可承受,使其真正成为IPN诊断的首选方法。基因组合检测产生了一些有趣的结果和发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b971/4994270/b1b40d35d033/13023_2016_500_Fig1_HTML.jpg

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