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

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Nickerson, SL; Marquis-Nicholson, R; Claxton, K; Ashton, F; Leong, IUS; Prosser, DO; Love, JM; George, AM; Taylor, G; Wilson, C; ...Date
2015-10-23Source Title
MicroarraysPublisher
MDPI AGUniversity of Melbourne Author/s
Taylor, GrahamAffiliation
Clinical PathologyMetadata
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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. (2015). SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.. Microarrays (Basel), 4 (4), pp.490-502. https://doi.org/10.3390/microarrays4040490.Access Status
Open AccessOpen Access at PMC
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996410Abstract
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.
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