title: m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.
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.
authors.affiliation: Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland.
authors.forename: Agata
authors.initials: A
authors.lastname: Kodroń
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Maciej R
authors.initials: MR
authors.lastname: Krawczyński
authors.affiliation: Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Tońska
authors.affiliation: Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland Institute of Biochemistry and Biophysics Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Bartnik
mesh_terms: D000293:Adolescent; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human
keywords: Genetics; Molecular Genetics; Ophthalmology