title: Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
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.
authors: Murdoch Childrens Research Institute and Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.
authors: Alison G
authors: AG
authors: Compton
authors: Christopher
authors: C
authors: Troedson
authors: Meredith
authors: M
authors: Wilson
authors: Peter G
authors: PG
authors: Procopis
authors: Fang-Yuan
authors: FY
authors: Li
authors: Ellen K
authors: EK
authors: Brundage
authors: Taro
authors: T
authors: Yamazaki
authors: David R
authors: DR
authors: Thorburn
authors: Lee-Jun C
authors: LJ
authors: Wong
mesh_terms: D002675:Child, Preschool; D055028:Comparative Genomic Hybridization / Q000379:methods*; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000235:genetics; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human