Japanese Journal of Ophthalmology

, Volume 48, Issue 3, pp 195–198

Analysis of COL8A2 Gene Mutation in Japanese Patients with Fuchs’ Endothelial Dystrophy and Posterior Polymorphous Dystrophy

Authors

    • Department of OphthalmologyKanazawa University Graduate School of Medical Science
  • Keiko Fujiki
    • Department of OphthalmologyJuntendo University School of Medicine
  • Akira Murakami
    • Department of OphthalmologyJuntendo University School of Medicine
  • Takuji Kato
    • Department of OphthalmologyJuntendo University School of Medicine
  • Li-Zhong Chen
    • Department of OphthalmologyJuntendo University School of Medicine
  • Hitoshi Onoe
    • Onoe Eye Clinic
  • Kiyoo Nakayasu
    • Department of OphthalmologyJuntendo University School of Medicine
  • Mayumi Sakurai
    • Department of OphthalmologyKanazawa University Graduate School of Medical Science
  • Mami Takahashi
    • Department of OphthalmologyKanazawa University Graduate School of Medical Science
  • Kazuhisa Sugiyama
    • Department of OphthalmologyKanazawa University Graduate School of Medical Science
  • Atsushi Kanai
    • Department of OphthalmologyJuntendo University School of Medicine
LABORATORY INVESTIGATION

DOI: 10.1007/s10384-003-0063-6

Cite this article as:
Kobayashi, A., Fujiki, K., Murakami, A. et al. Jpn J Ophthalmol (2004) 48: 195. doi:10.1007/s10384-003-0063-6

Purpose

To determine whether Japanese patients with Fuchs’ endothelial corneal dystrophy (FECD) and posterior polymorphous dystrophy (PPMD) carry mutations in the COL8A2 gene, and to investigate the possible pathogenicity of the COL8A2 gene in these corneal dystrophies.

Methods

DNA analysis of the COL8A2 gene was performed in 15 unrelated Japanese patients with FECD, and 5 patients with PPMD using polymerase chain reaction and direct sequencing. Mutation screenings were also performed in 36 unrelated normal volunteers as controls, as well as slit-lamp and specular microscopy.

Results

Two types of heterozygous missense mutations of the COL8A2 gene (R155Q and T502M) in 5 of 15 FECD probands (R155Q, 3/30 chromosomes, 10.0%; T502M, 3/30 chromosomes, 10.0%) were found. No mutation was detected in the coding region of the COL8A2 gene in the remaining 10 patients with FECD nor in any of the 5 patients with PPMD. These two mutations were also found in normal Japanese volunteers (R155Q, 5/72 chromosomes, 6.9%; T502M, 11/70 chromosomes, 15.7%). The chromosomal frequency of the two mutations was not significant between the patients and normal controls.

Conclusions

The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese FECD and PPMD patients examined in this study. Jpn J Ophthalmol 2004;48:195–198 © Japanese Ophthalmological Society 2004

Key words

COL8A2 geneFuchs’ dystrophymutation screeningpolymorphous dystrophy
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Copyright information

© Springer-Verlag Tokyo 2004