Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.
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ABSTRACT: Background and purpose
Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.Methods
To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing.Results
We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia.Conclusions
These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data.
SUBMITTER: Hammer MB
PROVIDER: S-EPMC4669564 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Publications
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.
Hammer M B MB Eleuch-Fayache G G Gibbs J R JR Arepalli S K SK Chong S B SB Sassi C C Bouhlal Y Y Hentati F F Amouri R R Singleton A B AB
European journal of neurology 20121009 3
<h4>Background and purpose</h4>Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA.<h4>Methods</h4>To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing.<h4>Results</h4>We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous va ...[more]
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