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

Rafehi, H, Szmulewicz, DJ, Pope, K, Wallis, M, Christodoulou, J, White, SM, Delatycki, MB, Lockhart, PJ and Bahlo, M 2020 , 'Rapid diagnosis of spinocerebellar ataxia 36 in a three-generation family using short-read whole-genome sequencing data' , Movement Disorders , pp. 1-6 , doi: 10.1002/mds.28105.

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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 (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 Type: Article
Authors/Creators: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
Keywords: ataxia, diagnosis, exSTRa, repeat expansions, short tandem repeats
Journal or Publication Title: Movement Disorders
Publisher: Wiley-Liss
ISSN: 0885-3185
DOI / ID Number: 10.1002/mds.28105
Copyright Information:

© 2020 International Parkinson and Movement Disorder Society

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