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Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India
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 re...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Movement Disorder Society
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9171311/ https://www.ncbi.nlm.nih.gov/pubmed/35287262 http://dx.doi.org/10.14802/jmd.21146 |
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author | Holla, Vikram Venkappayya Neeraja, Koti Stezin, Albert Prasad, Shweta Surisetti, Bharat Kumar Netravathi, Manjunath Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar |
author_facet | Holla, Vikram Venkappayya Neeraja, Koti Stezin, Albert Prasad, Shweta Surisetti, Bharat Kumar Netravathi, Manjunath Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar |
author_sort | Holla, Vikram Venkappayya |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9171311 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | The Korean Movement Disorder Society |
record_format | MEDLINE/PubMed |
spelling | pubmed-91713112022-06-17 Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India Holla, Vikram Venkappayya Neeraja, Koti Stezin, Albert Prasad, Shweta Surisetti, Bharat Kumar Netravathi, Manjunath Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar J Mov Disord Brief Communication 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. The Korean Movement Disorder Society 2022-05 2022-03-16 /pmc/articles/PMC9171311/ /pubmed/35287262 http://dx.doi.org/10.14802/jmd.21146 Text en Copyright © 2022 The Korean Movement Disorder Society https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Brief Communication Holla, Vikram Venkappayya Neeraja, Koti Stezin, Albert Prasad, Shweta Surisetti, Bharat Kumar Netravathi, Manjunath Kamble, Nitish Yadav, Ravi Pal, Pramod Kumar Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India |
title | Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India |
title_full | Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India |
title_fullStr | Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India |
title_full_unstemmed | Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India |
title_short | Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India |
title_sort | utility of clinical exome sequencing in dystonia: a single-center study from india |
topic | Brief Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9171311/ https://www.ncbi.nlm.nih.gov/pubmed/35287262 http://dx.doi.org/10.14802/jmd.21146 |
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