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

作者：Compton Alison G; Troedson Christopher; Wilson Meredith; Procopis Peter G; Li Fang Yuan; Brundage Ellen K; Yamazaki Taro; Thorburn David R^*; Wong Lee Jun C

来源：Mitochondrion, 2011, 11(1): 104-107.

DOI：10.1016/j.mito.2010.07.012

• POLG
• Array CGH
• Intragenic deletion
• Alpers syndrome

Mutations in the polymerase gamma (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.

• 出版日期2011-1