Japanese Journal of Ophthalmology

, Volume 56, Issue 1, pp 91–97

OPA1 mutations in Japanese patients suspected to have autosomal dominant optic atrophy

  • Tetsuya Hamahata
  • Takuro Fujimaki
  • Keiko Fujiki
  • Ai Miyazaki
  • Atsushi Mizota
  • Akira Murakami
Laboratory Investigation

DOI: 10.1007/s10384-011-0096-1

Cite this article as:
Hamahata, T., Fujimaki, T., Fujiki, K. et al. Jpn J Ophthalmol (2012) 56: 91. doi:10.1007/s10384-011-0096-1

Abstract

Purpose

To report three types of heterozygous mutations in the OPA1 gene in five patients from three families with autosomal dominant optic atrophy (ADOA, MIM#165500).

Methods

DNA was extracted from the leukocytes of the peripheral blood. For mtDNA, mutations were examined at positions 11778, 3460 and 14484. For the OPA1 gene, the exons were amplified by PCR and mutations were detected by restriction enzymes or the dye terminator method.

Results

We detected three types of OPA1 mutation but no mtDNA mutations. In the OPA1 gene, heterozygous frameshift mutations from codon 903 due to a four-base pair deletion in exon 27 were detected in three patients from one family (c.2708_2711delTTAG, p.V903GfsX905). A heterozygous mutation due to a three-base pair deletion in exon 17, leading to a one-amino acid deletion (c.1618_1620delACT, p.T540del), and a heterozygous mutation due to a one-base substitution in exon 11, leading to a stop codon (c.1084G>T, p.E362X), were detected in sporadic cases.

Conclusion

OPA1 mutations existed in three Japanese families with ADOA. After a detailed clinical assessment of the proband, the screening of the OPA1 gene may be helpful for precise diagnosis of ADOA, provided the relevant information of the family members is limited.

Keywords

OPA1Autosomal dominant optic atrophyMitochondriaMutation

Copyright information

© Japanese Ophthalmological Society 2011

Authors and Affiliations

  • Tetsuya Hamahata
    • 1
  • Takuro Fujimaki
    • 1
  • Keiko Fujiki
    • 1
  • Ai Miyazaki
    • 1
  • Atsushi Mizota
    • 2
  • Akira Murakami
    • 1
  1. 1.Department of OphthalmologyJuntendo University School of MedicineTokyoJapan
  2. 2.Department of OphthalmologyTeikyo University School of MedicineTokyoJapan