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A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy

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References

  1. Alexander C, Votruba M, Pesch UE, Thiselton D, Mayer S, Moor A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya S, Wissinger B (2000) OPA1 encoding a dynamin-related GTPase is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 26:211–215

    Article  PubMed  CAS  Google Scholar 

  2. Dellettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel C (2002) OPA1 (Kjer Type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab 75:97–107

    Article  Google Scholar 

  3. Nakamura M, Lin J, Ueno S, Asaoka R, Hirai T, Hotta Y, Miyake Y, Terasaki H (2006) Novel mutations in the OPA1 gene and associated clinical features in Japanese patient with optic atrophy. Ophthalmology 113:483–488

    Article  PubMed  Google Scholar 

  4. Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander D, Wissinger B (2001) OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 10:1359–1368

    Article  PubMed  CAS  Google Scholar 

  5. Marchbank NJ, Craig JE, Leek JP, Toohey M, Churchill AJ, Markham AF, Mackey DA, Toomes C, Inglehearn CF (2002) Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease. J Med Genet 39:e47, Available at: http://jmg.bmjjournals.com/cgi/content/full/39/8/e47 (accessed December 15, 2006)

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

We thank the patient for participating in this study, and his family for their invaluable support. We also wish to thank Makoto Nakamura MD and Jiro Sugita MD, PhD (Department of Ophthalmology, Nagoya University Graduate School of Medicine) for kindly providing primers for PCR, and Lumi Kobayashi MD and Kenta Yamasaki MD (Department of Ophthalmology, Kyoto Prefectural University of Medicine) for their technical help.

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Authors and Affiliations

  1. Department of Ophthalmology, Nantan General Hospital, 25 Yagiueno, Yagi-cho, Nantan, Kyoto, 629-0197, Japan

    Yuriko Ban & Yusuke Yoshida

  2. Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan

    Satoshi Kawasaki & Chikako Mochida

Authors
  1. Yuriko Ban
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  2. Yusuke Yoshida
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  3. Satoshi Kawasaki
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  4. Chikako Mochida
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Correspondence to Yuriko Ban.

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Ban, Y., Yoshida, Y., Kawasaki, S. et al. A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy. Graefes Arch Clin Exp Ophthalmol 245, 1581–1583 (2007). https://doi.org/10.1007/s00417-007-0598-1

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  • DOI: https://doi.org/10.1007/s00417-007-0598-1

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