Abstract
Autosomal recessive cerebellar ataxia encompasses a large and heterogeneous group of neurodegenerative disorders. We employed single nucleotide polymorphism (SNP) analysis and whole exome sequencing to investigate a consanguineous Maori pedigree segregating ataxia. We identified a novel mutation in exon 10 of the SACS gene: c.7962T>G p.(Tyr2654*), establishing the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). This is the first report of ARSACS in the Maori population. Our findings expand both the genetic and phenotypic spectrum of this rare disorder, and highlight the value of high-density SNP analysis and whole exome sequencing as powerful and cost-effective tools in the diagnosis of genetically heterogeneous disorders such as the hereditary ataxias.
Highlights
The advent of massively parallel sequencing (MPS) technologies has profoundly altered clinical genetic testing
Whilst MPS platforms vastly increase the number of tests that can be offered in the diagnostic setting, it is imperative that data quality, reliability and reproducibility are maintained
The performance of the two instruments was compared by sequencing 16 samples which had previously tested positive for a pathogenic variant by Sanger-based sequencing in one of the genes included on the panel
Summary
The advent of massively parallel sequencing (MPS) technologies has profoundly altered clinical genetic testing. A COMPARISON OF BENCHTOP HIGH-THROUGHPUT SEQUENCING PLATFORMS IN THE DIAGNOSTIC LABORATORY SETTING We designed a custom panel, comprising 24 genes predominantly implicated in hereditary cancer and metabolic diseases.
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