J Mov Disord.  2022 May;15(2):156-161. 10.14802/jmd.21146.

Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India

• Holla VV
• Neeraja K
• Stezin A
• Prasad S
• Surisetti BK
• Netravathi M
• Kamble N
• Yadav R
• Pal PK

• KMID: 2530222
• DOI: http://doi.org/10.14802/jmd.21146

Abstract

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.

Keyword

Clinical exome sequencing; Dystonia; Next-generation sequencing