ArticleMolecular biology reports2026
Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.
Article in Molecular biology reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundLeber congenital amaurosis (LCA) is a severe inherited retinal disorder that appears in early childhood and represents one of the primary causes of pediatric blindness. More than 25 genes, including NMNAT1, have been linked to this condition.
methodsA 5-year-old boy presenting clinical signs of LCA underwent whole-exome sequencing (WES). Comprehensive ophthalmic assessments, including optical coherence tomography (OCT) and electroretinography (ERG), were performed to evaluate retinal structure and function. In silico prediction tools, conservation analysis, molecular docking, and root mean square fluctuation (RMSF) simulations were used to investigate the structural and functional consequences of the detected variants. Segregation analysis was also performed in available family members.
resultsOCT imaging revealed marked atrophy of the outer retinal layers with disruption of photoreceptor and ellipsoid zones. ERG recordings demonstrated severely reduced scotopic and photopic responses, indicating generalized retinal dysfunction. Two novel compound heterozygous variants in NMNAT1 (NM_022787.4): c.731T > A (p.Val244Asp) and NMNAT1 (NM_022787.4): c.28G > T (p.Val10Phe) were identified. Segregation analysis confirmed a trans configuration. Based on combined evidence, both variants were reclassified according to ACMG guidelines. Structural analysis showed significant alterations in the variant proteins and increased overall stability relative to the wild type. Docking studies demonstrated global and local changes.
conclusionThese findings introduce two novel NMNAT1 variants linked to LCA9 and underscore the importance of combining clinical data, genetic evaluation, and computational analysis when interpreting rare variants. Further laboratory studies are still needed to clarify their pathogenic roles.
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