A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy

Ophthalmic Genet. 2016 Sep;37(3):354-6. doi: 10.3109/13816810.2015.1066829. Epub 2016 Feb 8.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People / ethnology
  • Child
  • Child, Preschool
  • Exons / genetics
  • Female
  • GTP Phosphohydrolases / genetics*
  • Heterozygote
  • Humans
  • Japan / epidemiology
  • Male
  • Mutation*
  • Optic Atrophy, Autosomal Dominant / diagnosis
  • Optic Atrophy, Autosomal Dominant / ethnology
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Pedigree
  • RNA Splice Sites / genetics*
  • Tomography, Optical Coherence
  • Visual Acuity / physiology

Substances

  • RNA Splice Sites
  • GTP Phosphohydrolases
  • OPA1 protein, human