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From the third issue of 2017, Microarrays has changed its name to High-Throughput.

Open AccessCase Report
Microarrays 2015, 4(4), 490-502; doi:10.3390/microarrays4040490

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
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)
View Full-Text   |   Download PDF [1008 KB, uploaded 23 October 2015]   |  

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). 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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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

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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