title: Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia.
abstract: Recessive mutations in genes encoding mitochondrial DNA replication machinery lead to mitochondrial DNA depletion syndromes. This genetically and phenotypically heterogeneous group includes infantile onset spinocerebellar ataxia (OMIM# 271245) a neurodegenerative disease caused by mutations in the mtDNA helicase gene, c10orf2, with an increased frequency in the Finnish population due to a founder mutation. We describe a child of English descent who presented with a severe phenotype of IOSCA as a result of two-novel mutations in the c10orf2 gene. This paper expands the phenotypic spectrum of IOSCA and adds further evidence for the presence of a genotype-phenotype correlation among patients with recessive mutations in this gene.
authors.affiliation: Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, MB, Canada.
authors.forename: Jessica N
authors.initials: JN
authors.lastname: Hartley
authors.forename: Frances A
authors.initials: FA
authors.lastname: Booth
authors.forename: Marc R
authors.initials: MR
authors.lastname: Del Bigio
authors.forename: Aizeddin A
authors.initials: AA
authors.lastname: Mhanni