%0 Case Reports
%T SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
%A Nickerson SL
%A Marquis-Nicholson R
%A Claxton K
%A Ashton F
%A Leong IU
%A Prosser DO
%A Love JM
%A George AM
%A Taylor G
%A Wilson C
%A Gardner RJ
%A Love DR
%J Microarrays (Basel)
%V 4
%N 4
%D Oct 2015 23
%M 27600236
暂无%R 10.3390/microarrays4040490
%X 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.