Article
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
Journal of medical genetics - 1 Dec 2014
Metodiev Metodi Dimitrov, Gerber Sylvie, Hubert Laurence, Delahodde Agnès, Chretien Dominique, Gérard Xavier, Amati-Bonneau Patrizia, Giacomotto Marie-Christine, Boddaert Nathalie, Kaminska Anna, Desguerre Isabelle, Amiel Jeanne, Rio Marlène, Kaplan Josseline, Munnich Arnold, Rötig Agnès, Rozet Jean Michel, Besmond Claude
Abstract excerpt
BACKGROUND: Inherited optic neuropathy has been ascribed to mutations in mitochondrial fusion/fission dynamics genes, nuclear and mitochondrial DNA-encoded respiratory enzyme genes or nuclear genes of poorly known mitochondrial function. However, the disease causing gene remains unknown in many families. METHODS: We used exome sequencing in order to identify the gene responsible for isolated or syndromic optic...
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