{Reference Type}: Case Reports
{Title}: SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
{Author}: Nickerson SL;Marquis-Nicholson R;Claxton K;Ashton F;Leong IU;Prosser DO;Love JM;George AM;Taylor G;Wilson C;Gardner RJ;Love DR;
{Journal}: Microarrays (Basel)
{Volume}: 4
{Issue}: 4
{Year}: Oct 2015 23
暂无{DOI}: 10.3390/microarrays4040490
{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.