Open Access Repository
Rapid diagnosis of spinocerebellar ataxia 36 in a three-generation family using short-read whole-genome sequencing data
Full text not available from this repository.
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 |
Item Statistics: | View statistics for this item |
Actions (login required)
![]() |
Item Control Page |