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| Leber hereditary optic neuropathy v2.9 | NSUN3 |
Neringa Jurkute gene: NSUN3 was added gene: NSUN3 was added to Leber hereditary optic neuropathy. Sources: Literature Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN3 were set to PMID: 40465263; PMID: 38790159 Phenotypes for gene: NSUN3 were set to LHON-like phenotype; inherited optic neuropathy; optic atrophy Mode of pathogenicity for gene: NSUN3 was set to Other Review for gene: NSUN3 was set to GREEN Added comment: PMID: 40465263 Biallelic NSUN3 variants were reported to be associated with an early onset severe mitochondrial disorder characterized by combined mitochondrial respiratory chain complex deficiency. 2 individuals from the paper presented with LHON-like phenotype; 5 with attenuated 2 syndromic Optic atrophy was unifying feature. PMID: 38790159 Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy Reports early onset optic neuropathy A follow up par Sources: Literature |
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