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Rapid diagnosis of spinocerebellar ataxia 36 in a three-generation family using short-read whole-genome sequencing data

Citation

Rafehi, H and Szmulewicz, DJ and Pope, K and Wallis, M and Christodoulou, J and White, SM and Delatycki, MB and Lockhart, PJ and Bahlo, M, Rapid diagnosis of spinocerebellar ataxia 36 in a three-generation family using short-read whole-genome sequencing data, Movement Disorders pp. 1-6. ISSN 0885-3185 (2020) [Refereed Article]

Copyright Statement

2020 International Parkinson and Movement Disorder Society

DOI: doi:10.1002/mds.28105

Abstract

Background: Spinocerebellar ataxias are often caused by expansions of short tandem repeats. Recent methodological advances have made repeat expansion (RE) detection with whole-genome sequencing (WGS) feasible.

Objectives: The objective of this study was to determine the genetic basis of ataxia in a multigenerational Australian pedigree with autosomal-dominant inheritance.

Methods and results: WGS was performed on 3 affected relatives. The sequence data were screened for known pathogenic REs using 2 RE detection tools: exSTRa and ExpansionHunter. This screen provided a clear and rapid diagnosis (<5 days from receiving the sequencing data) of spinocerebellar ataxia 36, a rare form of ataxia caused by an intronic GGCCTG RE in NOP56.

Conclusions: The diagnosis of rare ataxias caused by REs is highly feasible and cost-effective with WGS. We propose that WGS could potentially be implemented as the frontline, cost-effective methodology for the molecular testing of individuals with a clinical diagnosis of ataxia.

Item Details

Item Type:Refereed Article
Keywords:ataxia, diagnosis, exSTRa, repeat expansions, short tandem repeats
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Central nervous system
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Wallis, M (Dr Mathew Wallis)
ID Code:139767
Year Published:2020
Web of Science® Times Cited:1
Deposited By:Menzies Institute for Medical Research
Deposited On:2020-07-02
Last Modified:2020-09-10
Downloads:0

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