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KMID : 1197720220150020156
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대한파킨슨병 및 이상운동질환 학회지
2022 Volume.15 No. 2 p.156 ~ p.161
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Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
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Holla Vikram Venkappayya
Neeraja Koti
Stezin Albert
Prasad Shweta
Surisetti Bharat Kumar
Netravathi Manjunath
Kamble Nitish
Yadav Ravi
Pal Pramod Kumar
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Abstract
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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.
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KEYWORD
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Clinical exome sequencing, Dystonia, Next-generation sequencing
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