| 1 | ACO2, OPA9
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| Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
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| Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group, Lenaers G.
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| Brain Commun. Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. 2021
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| 2 | ACO2, ICRD, OPA9
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| Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
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| Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA.
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| Am J Med Genet A. Aug;182(8):1960-1966. doi: 10.1002/ajmg.a.61634. Epub 2020 May 25. 2020
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| 3 | ACO2, OPA9
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| Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
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| Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R.
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| Sci Rep. Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4 2020
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| 4 | ACO2, OPA9
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| Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
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| Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C.
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| J Med Genet 51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.
2014
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