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]
© 2020 International Parkinson and Movement Disorder Society
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 Type:||Refereed Article|
|Keywords:||ataxia, diagnosis, exSTRa, repeat expansions, short tandem repeats|
|Research Division:||Biomedical and Clinical Sciences|
|Research Field:||Central nervous system|
|Objective Group:||Clinical health|
|Objective Field:||Clinical health not elsewhere classified|
|UTAS Author:||Wallis, M (Dr Mathew Wallis)|
|Web of Science® Times Cited:||1|
|Deposited By:||Menzies Institute for Medical Research|
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