Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
Journal of Movement Disorders
;
: 156-161, 2022.
Artículo
en Inglés
| WPRIM
| ID: wpr-926094
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio pronóstico
Idioma:
Inglés
Revista:
Journal of Movement Disorders
Año:
2022
Tipo del documento:
Artículo
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