Erschienen in:
01.10.2015 | Original Article
Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family
verfasst von:
Anne Noreau, Roberta La Piana, Camille Marcoux, Patrick A. Dion, Bernard Brais, Geneviève Bernard, Guy A. Rouleau, FORGE Canada
Erschienen in:
Neurogenetics
|
Ausgabe 4/2015
Einloggen, um Zugang zu erhalten
Abstract
Two French-Canadian sibs with cerebellar ataxia and dysarthria were seen in our neurogenetics clinic. The older brother had global developmental delay and spastic paraplegia. Brain MRIs from these two affected individuals showed moderate to severe cerebellar atrophy. To identify the genetic basis for their disease, we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected sibs and their healthy father. We identified two mutations in the SIL1 gene, which is reported to cause Marinesco-Sjögren syndrome. This study emphasizes how the diagnosis of patients with ataxic gait and cerebellar atrophy may benefit from WES to identify the genetic cause of their condition.