ArticleBrain : a journal of neurology2023
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Article in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed.
- Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.Clinical genetics · 2026Article
- Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a NovelOphthalmology science · 2026Article
- Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.Brain : a journal of neurology · 2026Article
- A dataset of patients with isolated and syndromic optic neuropathies linked to RTN4IP1 genetic variants.Scientific data · 2026Article
- Health-related quality of life and tobacco and alcohol consumption in Leber hereditary optic neuropathy in Sweden.Frontiers in ophthalmology · 2026Article
- A molecular basis of Ferredoxin Reductase (FdxR) mutations that result in mitochondriopathies.Journal of inorganic biochemistry · 2025Article
- Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients.Translational vision science & technology · 2025Article
- Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.Brain : a journal of neurology · 2025Article
- Unravelling the conundrum of nucleolar NR2F1 localization using antibody-based approaches in vitro and in vivo.Communications biology · 2025Article
- Thirty years of StAR gazing. Expanding the universe of the steroidogenic acute regulatory protein.The Journal of endocrinology · 2025Review
- Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy.The Journal of clinical endocrinology and metabolism · 2025Review
- RTN4IP1 Contributes to ESCC via Regulation of Amino Acid Transporters.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.JCI insight · 2024Article
- Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.Scientific reports · 2024Article
- Ganglion Cell Complex Thickness and Visual Function in Chronic Leber Hereditary Optic Neuropathy.Investigative ophthalmology & visual science · 2024Article
- Article
- Primary mitochondrial disorders and mimics: Insights from a large French cohort.Annals of clinical and translational neurology · 2024Article
- Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.Journal of translational medicine · 2024Article
- Cardiac-specific PFKFB3 overexpression prevents diabetic cardiomyopathy via enhancing OPA1 stabilization mediated by K6-linked ubiquitination.Cellular and molecular life sciences : CMLS · 2024Article
- Mitochondrial DNA mutations in Korean patients with Leber's hereditary optic neuropathy.Scientific reports · 2024Article
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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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