Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data

摘要: 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 this study was to determine the genetic basis ataxia in a multigenerational Australian pedigree autosomal-dominant inheritance. METHODS AND RESULTS WGS performed on 3 affected relatives. sequence data were screened for known pathogenic REs using 2 RE tools: exSTRa and ExpansionHunter. This screen provided clear rapid diagnosis (<5 days from receiving data) spinocerebellar 36, rare form an intronic GGCCTG NOP56. CONCLUSIONS is highly feasible cost-effective WGS. We propose that could potentially be implemented as frontline, methodology molecular testing individuals clinical ataxia. © 2020 International Parkinson Movement Disorder Society.