Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

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 m...

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Bibliographic Details
Published in:Case reports in pediatrics 2012-01, Vol.2012 (2012), p.1-4
Main Authors: Mhanni, Aizeddin A., Booth, Frances A., Del Bigio, Marc R., Hartley, Jessica N.
Format: Article
Language:English
Subjects:
Ataxia
Case Report
Colleges & universities
Genotype & phenotype
Mitochondrial DNA
Mutation
Spinal cord
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Summary: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.
ISSN:2090-6803
2090-6811
DOI:10.1155/2012/303096