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A new interesting article has been published in Parkinsonism Relat Disord. 2019 Dec; 69:111-118. doi: 10.1016/j.parkreldis.2019.11.004. Epub 2019 Nov 7. and titled:

Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Authors of this article are:

Kumar KR, Davis RL, Tchan MC, Wali GM, Mahant N, Ng K, Kotschet K, Siow SF, Gu J, Walls Z0, Kang C, Wali G, Levy S, Phua CS, Yiannikas C, Darveniza P, Chang FCF, Morales-Briceño H, Rowe DB, Drew A0, Gayevskiy V, Cowley MJ, Minoche AE, Tisch S, Hayes M, Kummerfeld S, Fung VSC, Sue CM.

A summary of the article is shown below:

INTRODUCTION: Dystonia is a clinically and genetically heterogeneous disorder and a genetic cause is often difficult to elucidate. This is the first study to use whole genome sequencing (WGS) to investigate dystonia in a large sample of affected individuals.METHODS: WGS was performed on 111 probands with heterogenous dystonia phenotypes. We performed analysis for coding and non-coding variants, copy number variants (CNVs), and structural variants (SVs). We assessed for an association between dystonia and 10 known dystonia risk variants.RESULTS: A genetic diagnosis was obtained for 11.7% (13/111) of individuals. We found that a genetic diagnosis was more likely in those with an earlier age at onset, younger age at testing, and a combined dystonia phenotype. We identified pathogenic/likely-pathogenic variants in ADCY5 (n = 1), ATM (n = 1), GNAL (n = 2), GLB1 (n = 1), KMT2B (n = 2), PRKN (n = 2), PRRT2 (n = 1), SGCE (n = 2), and THAP1 (n = 1). CNVs were detected in 3 individuals. We found an association between the known risk variant ARSG rs11655081 and dystonia (p = 0.003).CONCLUSION: A genetic diagnosis was found in 11.7% of individuals with dystonia. The diagnostic yield was higher in those with an earlier age of onset, younger age at testing, and a combined dystonia phenotype. WGS may be particularly relevant for dystonia given that it allows for the detection of CNVs, which accounted for 23% of the genetically diagnosed cases.Copyright © 2019 The Authors. Published by Elsevier Ltd.. All rights reserved.

Check out the article’s website on Pubmed for more information:

[link-preview url=https://www.ncbi.nlm.nih.gov/pubmed/31731261 forceshot=true]

This article is a good source of information and a good way to become familiar with topics such as: Dystonia; GNAL; Genetic diagnosis; KMT2B; Whole genome sequencing.

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