ArticleBrain : a journal of neurology2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Article in Brain : a journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 42 citations in OpenAlex.
- Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.Brain : a journal of neurology · 2026Article
- When LHON Mimics Demyelination: Area Postrema Syndrome in BiallelicJournal of clinical medicine · 2026Article
- Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population.Journal of applied genetics · 2026Article
- RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.Annals of clinical and translational neurology · 2026Article
- Functions of J-domain proteins in mitochondrial protein biogenesis.Protein science : a publication of the Protein Society · 2026Review
- A Heteroplasmic MT-CO2 m.8024G > A Variant Is Associated with Mitochondrial Bioenergetic Deficiency and Optic Atrophy.Molecular neurobiology · 2026Article
- Article
- Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.Brain : a journal of neurology · 2025Article
- Leber's hereditary optic neuropathy - current status of idebenone and gene replacement therapies.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Autosomal Recessive Leber Hereditary Optic Neuropathy Triggered by Superior Mesenteric Artery Syndrome.Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society · 2025Article
- Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.European journal of ophthalmology · 2024Article
- Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.European journal of neurology · 2024Article
- Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.Brain : a journal of neurology · 2024Article
- Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method.Orphanet journal of rare diseases · 2024Article
- Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.International journal of molecular sciences · 2024Review
- RecessiveJournal of medical genetics · 2023Article
- Article
- Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.Brain : a journal of neurology · 2023Article
- Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.Journal of neurology · 2023Article
- Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G>A MT-ND4 Mutation.Ophthalmology and therapy · 2023Article
Corrections and comments
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Authors and funding
25 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum of Leigh syndrome, the most frequent paediatric mitochondrial disease. Herein, we characterize 28 so far unreported individuals from 26 families carrying a homozygous DNAJC30 p.Tyr51Cys founder variant, 24 manifesting with LHON, two manifesting with Leigh syndrome, and two remaining asymptomatic. This collection of unreported variant carriers confirms sex-dependent incomplete penetrance of the homozygous variant given a significant male predominance of disease and the report of asymptomatic homozygous variant carriers. The autosomal recessive LHON patients demonstrate an earlier age of disease onset and a higher rate of idebenone-treated and spontaneous recovery of vision in comparison to reported figures for maternally inherited disease. Moreover, the report of two additional patients with childhood- or adult-onset Leigh syndrome further evidences the association of DNAJC30 with Leigh syndrome, previously only reported in a single childhood-onset case.
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