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m.3635G>A mutation as a cause of Leber hereditary optic neuropathy
  1. Agata Kodroń1,
  2. Maciej R Krawczyński2,
  3. Katarzyna Tońska1,
  4. Ewa Bartnik1,3
  1. 1Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland
  2. 2Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland
  3. 3Institute of Biochemistry and Biophysics Polish Academy of Sciences, Warsaw, Poland
  1. Correspondence to Dr Katarzyna Tońska, Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, ul. Pawinskiego 5a, Warsaw 02-106, Poland; kaska{at}igib.uw.edu.pl

Abstract

Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation m.3635G>A in the ND1 gene.

  • Molecular Genetics
  • Ophthalmology
  • Genetics

https://doi.org/10.1136/jclinpath-2014-202192

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