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: 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
• Journal: Mitochondrion (Mitochondrion) Vol. 11 Issue 1 Pg. 104-7 (Jan 2011) ISSN: 1872-8278 [Electronic] Netherlands
• PMID: 20708716 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2010 Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.

Chemical References

• DNA, Mitochondrial
• DNA Polymerase gamma
• DNA-Directed DNA Polymerase
• POLG protein, human

Topics

• Child, Preschool
• Comparative Genomic Hybridization (methods)
• DNA Polymerase gamma
• DNA, Mitochondrial (genetics)
• DNA-Directed DNA Polymerase (genetics)
• Diffuse Cerebral Sclerosis of Schilder (genetics)
• Exons (genetics)
• Fatal Outcome
• Female
• Heterozygote
• Humans
• Mutation
• Oligonucleotide Array Sequence Analysis (methods)