Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; ... Houlden, H; + view all Sailer, A; Scholz, SW; Gibbs, JR; Tucci, A; Johnson, JO; Wood, NW; Plagnol, V; Hummerich, H; Ding, J; Hernandez, D; Hardy, J; Federoff, HJ; Traynor, BJ; Singleton, AB; Houlden, H; - view fewer (2012) Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology , 79 (2) 127 - 131. 10.1212/WNL.0b013e31825f048e.
Genetic heterogeneity is common in many neurologic disorders. This is particularly true for the hereditary ataxias where at least 36 disease genes or loci have been described for spinocerebellar ataxia and over 100 genes for neurologic disorders that present primarily with ataxia. Traditional genetic testing of a large number of candidate genes delays diagnosis and is expensive. In contrast, recently developed genomic techniques, such as exome sequencing that targets only the coding portion of the genome, offer an alternative strategy to rapidly sequence all genes in a comprehensive manner. Here we describe the use of exome sequencing to investigate a large, 5-generational British kindred with an autosomal dominant, progressive cerebellar ataxia in which conventional genetic testing had not revealed a causal etiology.
|Title:||Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases.|
|Open access status:||An open access publication|
|Additional information:||PMCID: PMC3390538|
|Keywords:||Adolescent, Adult, Aged, Arginine, Exome, Genetic Testing, Glycine, Humans, Middle Aged, Mutation, Pedigree, Protein Kinase C, Spinocerebellar Ataxias, Young Adult|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology > Molecular Neuroscience|
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
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