The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

Aude Rocatcher; Valérie Desquiret-Dumas; Majida Charif; Marc Ferré; Philippe Gohier; Delphine Mirebeau-Prunier; Christophe Verny; Dan Milea; Guy Lenaers; Catherine Vignal; Cédric Lamirel; Rabih Hage; Hélène Dollfus; Isabelle Meunier; Xavier Zanlonghi; Valérie Touitou; Pierre Lebranchu; Sylvie Odent; Caroline Froment Tilikete; Luc Jeanjean; Sabine Defoort-Dhellemmes; Isabelle Drumare-Bouvet; Vasily Smirnov; Catherine Vincent-Delorme; Damien Biotti; Fanny Varenne; Patrick Calvas; Nicolas Chassaing; Mickael Cohen; Christophe Orssaud; Fanny Mochel; Agathe Roubertie; Annick Toutain; Frédéric Pollet-Villard; Marie Noelle Bonnet Dupeyron; Céline Boulicot; Béatrice Cochener; Alice Goldenberg; Marie Line Jacquemont; Christine Francannet; Dominique Bonneau; Pascal Reynier; Patrizia Amati-Bonneau

doi:10.1093/brain/awac395

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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

Aude Rocatcher, Valérie Desquiret-Dumas, Majida Charif, Marc Ferré, Philippe Gohier, Delphine Mirebeau-Prunier, Christophe Verny, Dan Milea, Guy Lenaers, Catherine Vignal, …

Brain - A Journal of Neurology , Vol.146(2), pp.455-460

01/02/2023

DOI: https://doi.org/10.1093/brain/awac395

Résumé

recessive optic atrophy

dominant optic atrophy

mitochondrial DNA

Leber hereditary optic neuropathy

hereditary optic neuropathy

hereditary optic neuropathy Leber hereditary optic neuropathy mitochondrial DNA dominant optic atrophy recessive optic atrophy

Abstract Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our diagnostic activity, we retrospectively evaluated the combination of Leber hereditary optic neuropathy mutations testing with the exon sequencing of 87 nuclear genes on 2186 patients referred for suspected hereditary optic neuropathies. The positive diagnosis rate in individuals referred for Leber hereditary optic neuropathy testing was 18% (199/1126 index cases), with 92% (184/199) carrying one of the three main pathogenic variants of mitochondrial DNA (m.11778G>A, 66.5%; m.3460G>A, 15% and m.14484T>C, 11%). The positive diagnosis rate in individuals referred for autosomal dominant or recessive optic neuropathies was 27% (451/1680 index cases), with 10 genes accounting together for 96% of this cohort. This represents an overall positive diagnostic rate of 30%. The identified top 10 nuclear genes included OPA1, WFS1, ACO2, SPG7, MFN2, AFG3L2, RTN4IP1, TMEM126A, NR2F1 and FDXR. Eleven additional genes, each accounting for less than 1% of cases, were identified in 17 individuals. Our results show that 10 major genes account for more than 96% of the cases diagnosed with our nuclear gene panel.

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Titre: The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Créateurs - sans rôle: Aude Rocatcher - Centre Hospitalier Universitaire d'Angers
Valérie Desquiret-Dumas - Centre National de la Recherche Scientifique
Majida Charif - Centre National de la Recherche Scientifique
Marc Ferré - Centre National de la Recherche Scientifique
Philippe Gohier - Centre Hospitalier Universitaire d'Angers
Delphine Mirebeau-Prunier - Université d'Angers
Christophe Verny - Université d'Angers
Dan Milea - Centre Hospitalier Universitaire d'Angers
Guy Lenaers - Centre Hospitalier Universitaire d'Angers
Catherine Vignal - Centre Hospitalier Universitaire d'Angers
Cédric Lamirel - Hôpital Fondation Adolphe de Rothschild = Adolphe de Rothschild Foundation Hospital
Rabih Hage - Centre hospitalier national d'ophtalmologie des Quinze-Vingts
Hélène Dollfus - Laboratoire de Génétique Médicale
Isabelle Meunier - Université de Montpellier, Institut des Neurosciences de Montpellier - INM
Xavier Zanlonghi - Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
Valérie Touitou - Centre Hospitalier Universitaire d'Angers
Pierre Lebranchu - Centre Hospitalier Universitaire d'Angers
Sylvie Odent - Centre Hospitalier Universitaire d'Angers
Caroline Froment Tilikete - Centre Hospitalier Universitaire d'Angers
Luc Jeanjean - Centre Hospitalier Universitaire d'Angers
Sabine Defoort-Dhellemmes - Centre Hospitalier Universitaire d'Angers
Isabelle Drumare-Bouvet - Centre Hospitalier Universitaire d'Angers
Vasily Smirnov - Centre Hospitalier Universitaire d'Angers
Catherine Vincent-Delorme - Centre Hospitalier Universitaire d'Angers
Damien Biotti - Centre Hospitalier Universitaire d'Angers
Fanny Varenne - Centre Hospitalier Universitaire d'Angers
Patrick Calvas - Centre Hospitalier Universitaire d'Angers
Nicolas Chassaing - Centre Hospitalier Universitaire d'Angers
Mickael Cohen - Laboratoire de Biologie Moléculaire et Cellulaire des Eucaryotes
Christophe Orssaud - Centre Hospitalier Universitaire d'Angers
Fanny Mochel - Centre Hospitalier Universitaire d'Angers
Agathe Roubertie - Centre Hospitalier Universitaire d'Angers
Annick Toutain - Centre Hospitalier Universitaire d'Angers
Frédéric Pollet-Villard - Centre Hospitalier Universitaire d'Angers
Marie Noelle Bonnet Dupeyron - Centre Hospitalier Universitaire d'Angers
Céline Boulicot - Centre Hospitalier Universitaire d'Angers
Béatrice Cochener - Centre Hospitalier Universitaire d'Angers
Alice Goldenberg - Centre Hospitalier Universitaire d'Angers
Marie Line Jacquemont - Centre Hospitalier Universitaire d'Angers
Christine Francannet
Dominique Bonneau - Centre Hospitalier Universitaire d'Angers
Pascal Reynier - Centre Hospitalier Universitaire d'Angers
Patrizia Amati-Bonneau - Inserm
Détails de publication: Brain - A Journal of Neurology , Vol.146(2), pp.455-460
Identifiants: 99145016709311
Unité académique: Institut des Neurosciences de Montpellier - INM
Langue: English
Type de ressource: Journal article
Champs locaux: hal-04320695