Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.

@article{Compton2011ApplicationOO,
  title={Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.},
  author={Alison G Compton and Christopher Troedson and Meredith Wilson and Peter G Procopis and Fang-yuan Li and Ellen K. Brundage and Taro Yamazaki and David R Thorburn and L. J. C. Wong},
  journal={Mitochondrion},
  year={2011},
  volume={11 1},
  pages={104-7}
}
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… CONTINUE READING