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SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

1
Diagnostic Genetics, LabPLUS, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand
2
Centre for Translational Pathology, University of Melbourne, Corner Grattan Street and Royal Parade, Parkville, Victoria 3010, Australia
3
Paediatric Metabolic Service, Starship Children’s Hospital, Auckland 1148, New Zealand
4
Clinical Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand
*
Author to whom correspondence should be addressed.
Academic Editor: Jari Louhelainen
Microarrays 2015, 4(4), 490-502; https://doi.org/10.3390/microarrays4040490
Received: 30 July 2015 / Revised: 12 October 2015 / Accepted: 15 October 2015 / Published: 23 October 2015
(This article belongs to the Special Issue SNP Array)
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). 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. View Full-Text
Keywords: SACS; ARSACS; sacsin; autosomal recessive ataxia; microarray; exome sequencing; homozygosity; consanguinity SACS; ARSACS; sacsin; autosomal recessive ataxia; microarray; exome sequencing; homozygosity; consanguinity
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Nickerson, S.L.; Marquis-Nicholson, R.; Claxton, K.; Ashton, F.; Leong, I.U.S.; Prosser, D.O.; Love, J.M.; George, A.M.; Taylor, G.; Wilson, C.; Gardner, R.J.M.; Love, D.R. SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia. Microarrays 2015, 4, 490-502.

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