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m.3635G>A mutation as a cause of Leber hereditary optic neuropathy
Agata Kodroń1, Maciej R Krawczyński2, Katarzyna Tońska1
1Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland.
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.
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