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

• 发表时间: Oct 2015 23
• 来源期刊: Microarrays (Basel)
• DOI: 10.3390/microarrays4040490
• PMID: 27600236
• 文章类型: Case Reports
• 作者列表: 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

关键词: ARSACS; SACS; autosomal recessive ataxia; consanguinity; exome sequencing; homozygosity; microarray; sacsin

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.