Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions (original) (raw)

• Brief Communication
• Published: July 2001
• Bart Dermaut1,2,
• Ann Löfgren1,2,
• Jean-Jacques Martin3,4,5,6 &
• …
• Christine Van Broeckhoven1,2

Nature Genetics volume 28, pages 211–212 (2001)Cite this article

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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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Authors and Affiliations

1. Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Universiteitsplein 1
   Gert Van Goethem, Bart Dermaut, Ann Löfgren & Christine Van Broeckhoven
2. Antwerpen, B-2610, Belgium
   Gert Van Goethem, Bart Dermaut, Ann Löfgren & Christine Van Broeckhoven
3. Division of Neurology, University Hospital of Antwerp,
   Gert Van Goethem & Jean-Jacques Martin
4. Antwerpen, Belgium
   Gert Van Goethem & Jean-Jacques Martin
5. Department of Medicine, Laboratory of Neuropathology, Born-Bunge Foundation, University of Antwerp,
   Jean-Jacques Martin
6. Antwerpen, Belgium
   Jean-Jacques Martin

Authors

1. Gert Van Goethem
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2. Bart Dermaut
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3. Ann Löfgren
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4. Jean-Jacques Martin
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5. Christine Van Broeckhoven
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Correspondence toChristine 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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• Received: 23 April 2001
• Accepted: 10 June 2001
• Issue Date: July 2001
• DOI: https://doi.org/10.1038/90034

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