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Comment
. 2023 Sep 1;146(9):e67-e70.
doi: 10.1093/brain/awad080.

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

Claudio Fiorini  1 , Danara Ormanbekova  1 , Flavia Palombo  1 , Michele Carbonelli  2 , Giulia Amore  2 , Martina Romagnoli  1 , Pietro d'Agati  1 , Maria Lucia Valentino  1   2 , Piero Barboni  3 , Maria Lucia Cascavilla  3 , Annamaria De Negri  4 , Federico Sadun  5 , Arturo Carta  6 , Francesco Testa  7 , Vittoria Petruzzella  8 , Silvana Guerriero  8 , Stefania Bianchi Marzoli  9 , Valerio Carelli  1   2 , Chiara La Morgia  1   2 , Leonardo Caporali  1
Affiliations
Comment

The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10

Claudio Fiorini et al. Brain. .
No abstract available

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Conflict of interest statement

The authors report no competing interests.

Figures

Figure 1
Figure 1
Workflow of the Italian and French studies and the global results.
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References

    1. Rocatcher A, Desquiret-Dumas V, Charif M, et al. . The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands. Brain. 2023; 146:455–460. - PubMed
    1. Caporali L, Iommarini L, La Morgia C, et al. . Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance leber’s hereditary optic neuropathy. PLoS Genet. 2018;14:e1007210. - PMC - PubMed
    1. Charif M, Gueguen N, Ferré M, et al. . Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Brain Commun. 2021;3:fcab063. - PMC - PubMed
    1. Caporali L, Magri S, Legati A, et al. . ATPase domain AFG3L2 mutations Alter OPA1 processing and cause optic neuropathy. Ann Neurol. 2020;88:18–32. - PMC - PubMed
    1. Charif M, Chevrollier A, Gueguen N, et al. . Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. Neurol Genet. 2020;6:e428. - PMC - PubMed

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