Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. (11th August 2012)

• Record Type: Journal Article
• Authors: Hartley, Jessica N.; Booth, Frances A.; Del Bigio, Marc R.; Mhanni, Aizeddin A.
• Other Names: Arslan N. Academic Editor.; Rorke-Adams L. B. Academic Editor.
• Is Part Of: Case reports in pediatrics. Volume 2012(2012)
• Publication Date: 2012-08-11
• Subjects: Pediatrics -- Periodicals; Pediatrics; Pediatrics; Electronic journals; Periodicals; Case Reports; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 618.92
• DOI: 10.1155/2012/303096
• Languages: English
• ISSNs: 2090-6803

Abstract

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.