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Updated: May 18, 2026
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
M B Hammer1,2, G Eleuch-Fayache1, J R Gibbs2,3
1Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, La Rabta, Tunis, Tunisia.
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.
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