Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three‐Generation Family Using Short‐Read Whole‐Genome Sequencing Data
- Resource Type
- Authors
- Paul J. Lockhart; Haloom Rafehi; Mathew Wallis; Martin B. Delatycki; Susan M. White; David J. Szmulewicz; John Christodoulou; Kate Pope; Melanie Bahlo
- Source
- Movement Disorders. 35:1675-1679
- Subject
- 0301 basic medicine
congenital, hereditary, and neonatal diseases and abnormalities
Ataxia
Sequencing data
Computational biology
Biology
03 medical and health sciences
0302 clinical medicine
Data sequences
medicine
Humans
Spinocerebellar Ataxias
Whole genome sequencing
Whole Genome Sequencing
Australia
medicine.disease
Short read
Pedigree
030104 developmental biology
Neurology
Spinocerebellar ataxia
Microsatellite
Neurology (clinical)
medicine.symptom
Trinucleotide repeat expansion
030217 neurology & neurosurgery
Microsatellite Repeats
- Language
- ISSN
- 1531-8257
0885-3185
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 (