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| Optic neuropathy v5.26 | NDUFAF3 |
Neringa Jurkute gene: NDUFAF3 was added gene: NDUFAF3 was added to Optic neuropathy. Sources: Literature,Research Mode of inheritance for gene: NDUFAF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF3 were set to PMID: 41234160 Phenotypes for gene: NDUFAF3 were set to Optic neuropathy, optic atrophy; LHON-like Mode of pathogenicity for gene: NDUFAF3 was set to Other Review for gene: NDUFAF3 was set to GREEN Added comment: Recently accepted publication "Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy" reports Complex I genes, which pathogenic defects lead to optic atrophy; LHON-like phenotypes. 1 family were carrying NDUFAF3 pathogenic variants and affected individual was diagnoses with optic neuropathy Defects in core CI subunits in reported cohort lead to isolated optic atrophy, while defects in accessory CI subunits and assembly factors resulted in a spectrum of phenotypes, from isolated to syndromic optic atrophy. For 12 cases, the subacute onset of vision loss enabled us to associate or confirm novel genes (NDUFS7, NDUFV1, NDUFAF2, NDUFAF4, NDUFAF8) with the autosomal recessive Leber Hereditary Optic Neuropathy (arLHON) phenotype. Moreover, in the NDUFS7 subunit a partial spatial segregation was noted for missense variants causing either Leigh syndrome or isolated optic atrophy, hinting at possible disease-specific molecular defect. Sources: Literature, Research |
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