title: Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.
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.
authors.affiliation: Montreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.|Department of Pathology and Cellular Biology, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
authors.forename: Anne
authors.initials: A
authors.lastname: Noreau
authors.affiliation: Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.|Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.affiliation: Department of Pathology and Cellular Biology, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.
authors.forename: Camille
authors.initials: C
authors.lastname: Marcoux
authors.affiliation: Montreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.|Department of Pathology and Cellular Biology, Faculty of Medicine, Université de Montréal, Montreal, Quebec, Canada.|Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
authors.forename: Patrick A
authors.initials: PA
authors.lastname: Dion
authors.affiliation: Montreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada.|Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.|Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
authors.forename: Bernard
authors.initials: B
authors.lastname: Brais
authors.affiliation: Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Montréal Children's Hospital, McGill University Heath Center, Montréal, Quebec, Canada.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Bernard
authors.affiliation: Montreal Neurological Institute and Hospital, McGill University, 3801 University St., Room 636, Montreal, Quebec, Canada. guy.rouleau@mcgill.ca.|Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada. guy.rouleau@mcgill.ca.
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
mesh_terms: D001284:Atrophy; D002170:Canada; D002524:Cerebellar Ataxia / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D004401:Dysarthria / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D035781:Siblings; D055815:Young Adult
chemical_list: D020662:Guanine Nucleotide Exchange Factors; C418483:SIL1 protein, human
keywords: Ataxia; Cerebellar; Mutations; SIL1; Whole exome sequencing