Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2068833 | Mitochondrion | 2011 | 4 Pages |
Abstract
Mutations in the polymerase γ (POLG) gene are among the most common causes of mitochondrial disease and more than 160 POLG mutations have been reported. However, a large proportion of patients suspected of having POLG mutations only have one (heterozygous) definitive pathogenic mutation identified. Using oligonucleotide array CGH, we identified a compound heterozygous large intragenic deletion encompassing exons 15–21 of this gene in a child with Alpers syndrome due to mtDNA depletion. This is the first large POLG deletion reported and the findings show the clinical utility of using array CGH in cases where a single heterozygous mutation has been identified in POLG.
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Authors
Alison G. Compton, Christopher Troedson, Meredith Wilson, Peter G. Procopis, Fang-Yuan Li, Ellen K. Brundage, Taro Yamazaki, David R. Thorburn, Lee-Jun C. Wong,