Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
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Date
2012-8-11
Authors
Hartley, Jessica N.
Booth, Frances A.
Del Bigio, Marc R.
Mhanni, Aizeddin A.
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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.
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Jessica N. Hartley, Frances A. Booth, Marc R. Del Bigio, and Aizeddin A. Mhanni, “Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia,” Case Reports in Pediatrics, vol. 2012, Article ID 303096, 4 pages, 2012. doi:10.1155/2012/303096