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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Abstract

Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase γ (POLG). We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication.

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Figure 1: a, Pedigrees of PEO families A, B and C (ref. 6).

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Acknowledgements

We are grateful to the family members who volunteered in this study. This work was in part funded by the Fund for Scientific Research-Flanders (FWO-F), Belgium. B.D. is a doctoral fellow of the FWO-F.

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Correspondence to Christine Van Broeckhoven.

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Van Goethem, G., Dermaut, B., Löfgren, A. et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28, 211–212 (2001). https://doi.org/10.1038/90034

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