SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
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ABSTRACT:
SUBMITTER: Nickerson SL
PROVIDER: S-EPMC4996410 | biostudies-literature | 2015 Oct
REPOSITORIES: biostudies-literature
Publications
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia.
Nickerson Sarah L SL Marquis-Nicholson Renate R Claxton Karen K Ashton Fern F Leong Ivone U S IU Prosser Debra O DO Love Jennifer M JM George Alice M AM Taylor Graham G Wilson Callum C Gardner R J McKinlay RJ Love Donald R DR
Microarrays (Basel, Switzerland) 20151023 4
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 ...[more]
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