临床外显子组测序在肌张力障碍中的应用：一项来自印度的单中心研究
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
作者信息
Holla Vikram Venkappayya, Neeraja Koti, Stezin Albert, Prasad Shweta, Surisetti Bharat Kumar, Netravathi Manjunath, Kamble Nitish, Yadav Ravi, Pal Pramod Kumar
机构信息
Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru, India.
出版信息
J Mov Disord. 2022 May;15(2):156-161. doi: 10.14802/jmd.21146. Epub 2022 Mar 16.
OBJECTIVE
With the use of next-generation sequencing in clinical practice, several genetic etiologies of dystonia have been identified. This study aimed to ascertain the utility of clinical exome sequencing (CES) in dystonia and factors suggestive of a genetic etiology.
METHODS
This study was a retrospective chart review of patients with dystonia who had undergone CES for the evaluation of dystonia.
RESULTS
Forty-eight patients (35 males, 46 families) with dystonia were studied, with a mean age at onset of 16.0 ± 14.1 (1-58) years. A pathogenic/likely pathogenic variant was found in 20 patients (41.7%) among which 14 patients (29.2%) carried a novel variant. CES was more likely to detect a genetic diagnosis in patients with an early age at onset, i.e., ≤ 20 years.
CONCLUSION
CES is a useful tool in the diagnostic evaluation of dystonia, with a yield of close to 40%. Patients with an earlier age at onset have a higher likelihood of having dystonia due to a genetic cause than those with a later age at onset.
目的
随着下一代测序技术在临床实践中的应用，已确定了肌张力障碍的几种遗传病因。本研究旨在确定临床外显子组测序（CES）在肌张力障碍中的效用以及提示遗传病因的因素。
方法
本研究是对因评估肌张力障碍而接受CES的肌张力障碍患者进行的回顾性病历审查。
结果
对48例（35例男性，46个家系）肌张力障碍患者进行了研究，平均发病年龄为16.0±14.1（1 - 58）岁。在20例患者（41.7%）中发现了致病/可能致病的变异，其中14例患者（29.2%）携带新变异。CES在发病年龄早（即≤20岁）的患者中更有可能检测到遗传诊断。
结论
CES是肌张力障碍诊断评估中的一种有用工具，检出率接近40%。发病年龄早的患者因遗传原因导致肌张力障碍的可能性高于发病年龄晚的患者。
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